ClinVar Miner

List of variants in gene SMCHD1 studied for not provided

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 522
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HGVS dbSNP gnomAD frequency
NM_015295.3(SMCHD1):c.4967-15G>T rs300291 0.98262
NM_015295.3(SMCHD1):c.4347-295G>A rs300285 0.96477
NM_015295.3(SMCHD1):c.4281+84A>G rs300293 0.96457
NM_015295.3(SMCHD1):c.1342+133A>G rs481575 0.86858
NM_015295.3(SMCHD1):c.1040+276G>A rs497869 0.83668
NM_015295.3(SMCHD1):c.873+53G>A rs637651 0.81664
NM_015295.3(SMCHD1):c.1342+86T>C rs626994 0.81647
NM_015295.3(SMCHD1):c.873+196T>C rs1270870 0.80234
NM_015295.3(SMCHD1):c.2122G>A (p.Val708Ile) rs2276092 0.71166
NM_015295.3(SMCHD1):c.1851A>G (p.Thr617=) rs635132 0.60549
NM_015295.3(SMCHD1):c.5367-291_5367-290insCAGCTTT rs56754782 0.55323
NM_015295.3(SMCHD1):c.4165+286A>G rs300294 0.44760
NM_015295.3(SMCHD1):c.1647+199A>G rs501573 0.41986
NM_015295.3(SMCHD1):c.2064-286G>A rs2509459 0.39958
NM_015295.3(SMCHD1):c.4629C>T (p.Gly1543=) rs483547 0.39322
NM_015295.3(SMCHD1):c.1843-59T>A rs8090967 0.38066
NM_015295.3(SMCHD1):c.3802-296T>C rs159826 0.36106
NM_015295.3(SMCHD1):c.3425+37C>T rs8094260 0.33927
NM_015295.3(SMCHD1):c.2637A>T (p.Lys879Asn) rs633422 0.32971
NM_015295.3(SMCHD1):c.1843-17T>A rs8090988 0.32584
NM_015295.3(SMCHD1):c.5994-224T>C rs1318078 0.32507
NM_015295.3(SMCHD1):c.3277-233T>C rs476476 0.32404
NM_015295.3(SMCHD1):c.3515-76G>A rs521992 0.32284
NM_015295.3(SMCHD1):c.3528A>G (p.Thr1176=) rs12327477 0.28781
NM_015295.3(SMCHD1):c.4137A>G (p.Ala1379=) rs2304859 0.28776
NM_015295.3(SMCHD1):c.4166-110_4166-109insAT rs71365197 0.28738
NM_015295.3(SMCHD1):c.3277-42_3277-39dup rs10638660 0.28675
NM_015295.3(SMCHD1):c.2700+240G>A rs11080984 0.28544
NM_015295.3(SMCHD1):c.2700+205A>G rs12605423 0.28415
NM_015295.3(SMCHD1):c.5052+203A>G rs8083931 0.28272
NM_015295.3(SMCHD1):c.5476+10A>G rs3213926 0.28248
NM_015295.3(SMCHD1):c.5720-291C>T rs2298497 0.28223
NM_015295.3(SMCHD1):c.5720-95A>G rs2298498 0.28222
NM_015295.3(SMCHD1):c.3927+195A>G rs4798020 0.24863
NM_015295.3(SMCHD1):c.5548-43_5548-40del rs35853884 0.24521
NM_015295.3(SMCHD1):c.2701-85C>G rs16943716 0.19685
NM_015295.3(SMCHD1):c.3633+231A>G rs28377858 0.19681
NM_015295.3(SMCHD1):c.4435-150A>G rs9954465 0.19678
NM_015295.3(SMCHD1):c.4008-110A>G rs2304860 0.19677
NM_015295.3(SMCHD1):c.3277-282G>A rs9964083 0.19660
NM_015295.3(SMCHD1):c.3048+225T>C rs60929090 0.19635
NM_015295.3(SMCHD1):c.3927+151A>T rs2304862 0.19630
NM_015295.3(SMCHD1):c.5719+307G>A rs72866583 0.19287
NM_015295.3(SMCHD1):c.2338+32A>G rs62084229 0.19102
NM_015295.3(SMCHD1):c.5547+145C>T rs17552342 0.19099
NM_015295.3(SMCHD1):c.3277-136G>A rs8092725 0.19095
NM_015295.3(SMCHD1):c.2914-96T>C rs17627559 0.19087
NM_015295.3(SMCHD1):c.2913+92T>A rs10502304 0.19079
NM_015295.3(SMCHD1):c.2261-207del rs144450817 0.19063
NM_015295.3(SMCHD1):c.2458+269C>T rs62084230 0.19060
NM_015295.3(SMCHD1):c.2261-273A>G rs17551281 0.18969
NM_015295.3(SMCHD1):c.5993+160C>T rs62077723 0.18868
NM_015295.3(SMCHD1):c.424+33T>C rs648105 0.18825
NM_015295.3(SMCHD1):c.2458+293A>G rs62084231 0.18793
NM_015295.3(SMCHD1):c.4282-246A>G rs2347806 0.18784
NM_015295.3(SMCHD1):c.187-72T>C rs621302 0.18383
NM_015295.3(SMCHD1):c.263-164T>G rs646699 0.18370
NM_015295.3(SMCHD1):c.425-203A>G rs660777 0.18369
NM_015295.3(SMCHD1):c.262+48T>C rs531379 0.18368
NM_015295.3(SMCHD1):c.507+235_507+236del rs113724296 0.18309
NM_015295.3(SMCHD1):c.1843-77A>G rs62084217 0.18251
NM_015295.3(SMCHD1):c.638+109T>C rs596500 0.16436
NM_015295.3(SMCHD1):c.2603+253A>G rs12608077 0.12710
NM_015295.3(SMCHD1):c.4346+287G>A rs4798021 0.09705
NM_015295.3(SMCHD1):c.3928-133A>G rs2019793 0.09697
NM_015295.3(SMCHD1):c.1342+207G>T rs73365816 0.09657
NM_015295.3(SMCHD1):c.2700+234C>G rs11080983 0.07900
NM_015295.3(SMCHD1):c.4007+84C>T rs2304861 0.07854
NM_015295.3(SMCHD1):c.4435-180C>G rs11665114 0.07809
NM_015295.3(SMCHD1):c.262+25G>C rs634246 0.07576
NM_015295.3(SMCHD1):c.1647+246G>T rs115550964 0.07558
NM_015295.3(SMCHD1):c.1343-333G>A rs75898678 0.07340
NM_015295.3(SMCHD1):c.2260+228T>C rs79226463 0.07196
NM_015295.3(SMCHD1):c.3514+215G>A rs11872184 0.06292
NC_000018.10:g.2655552G>A rs28652584 0.05538
NM_015295.3(SMCHD1):c.4966+95T>C rs8098934 0.05297
NM_015295.3(SMCHD1):c.2774-127A>G rs11876511 0.05278
NM_015295.3(SMCHD1):c.3049-253A>G rs80114931 0.05270
NM_015295.3(SMCHD1):c.3049-214C>A rs76979575 0.05267
NM_015295.3(SMCHD1):c.2603+25T>G rs73365837 0.05119
NM_015295.3(SMCHD1):c.5547+212T>C rs8086632 0.04957
NM_015295.3(SMCHD1):c.507+146C>T rs73936777 0.03954
NM_015295.3(SMCHD1):c.399T>C (p.Tyr133=) rs7239096 0.03555
NM_015295.3(SMCHD1):c.639-86A>G rs9962343 0.03548
NM_015295.3(SMCHD1):c.639-122C>T rs9950464 0.03547
NM_015295.3(SMCHD1):c.2913+113C>T rs9950040 0.03415
NM_015295.3(SMCHD1):c.2914-103C>A rs9952719 0.03406
NM_015295.3(SMCHD1):c.3276+288A>G rs78050995 0.03406
NM_015295.3(SMCHD1):c.2878A>G (p.Ile960Val) rs9961682 0.03402
NM_015295.3(SMCHD1):c.3514+235G>A rs9944876 0.03402
NM_015295.3(SMCHD1):c.3927+332C>T rs9954526 0.03366
NM_015295.3(SMCHD1):c.425-77A>G rs73936775 0.03261
NM_015295.3(SMCHD1):c.5367-85A>G rs76955546 0.03135
NM_015295.3(SMCHD1):c.3612A>T (p.Ser1204=) rs115632137 0.03072
NM_015295.3(SMCHD1):c.2063+24G>A rs75714825 0.02813
NM_015295.3(SMCHD1):c.3277-231A>G rs117286838 0.02530
NM_015295.3(SMCHD1):c.2701-217C>G rs74885792 0.02487
NM_015295.3(SMCHD1):c.1843-18T>A rs116599328 0.02018
NM_015295.3(SMCHD1):c.1343-242G>A rs117590407 0.01901
NM_015295.3(SMCHD1):c.3802-16T>G rs79829175 0.01859
NM_015295.3(SMCHD1):c.3049-45T>G rs116202511 0.01842
NM_015295.3(SMCHD1):c.4346+163G>A rs114813343 0.01794
NM_015295.3(SMCHD1):c.754-53G>T rs141243907 0.01793
NM_015295.3(SMCHD1):c.3276+321G>A rs117584885 0.01792
NM_015295.3(SMCHD1):c.754-52C>T rs146251858 0.01792
NM_015295.3(SMCHD1):c.2774-296G>A rs116916319 0.01791
NM_015295.3(SMCHD1):c.5993+185G>A rs147416786 0.01786
NM_015295.3(SMCHD1):c.2063+153A>C rs117972250 0.01785
NM_015295.3(SMCHD1):c.638+224T>C rs78468327 0.01634
NM_015295.3(SMCHD1):c.1041-199C>T rs80190219 0.01631
NM_015295.3(SMCHD1):c.186+243C>G rs111527232 0.01460
NM_015295.3(SMCHD1):c.3514+61A>G rs113825505 0.01300
NM_015295.3(SMCHD1):c.1647+252T>G rs184722548 0.01262
NM_015295.3(SMCHD1):c.3801+123T>C rs118141308 0.01249
NM_015295.3(SMCHD1):c.4566+217C>G rs75261709 0.01132
NM_015295.3(SMCHD1):c.3277-163G>A rs115449888 0.01074
NM_015295.3(SMCHD1):c.5176-40_5176-39del rs60477392 0.00959
NM_015295.3(SMCHD1):c.4166-214A>G rs79451143 0.00921
NM_015295.3(SMCHD1):c.2774-211G>A rs77568208 0.00920
NM_015295.3(SMCHD1):c.1956+79G>A rs115927532 0.00893
NM_015295.3(SMCHD1):c.5548-110T>C rs75038094 0.00873
NM_015295.3(SMCHD1):c.4165+109_4165+110del rs534997178 0.00869
NM_015295.3(SMCHD1):c.187-260C>T rs114921993 0.00833
NM_015295.3(SMCHD1):c.3425+94C>T rs116544024 0.00811
NM_015295.3(SMCHD1):c.4566+152C>A rs142088730 0.00797
NM_015295.3(SMCHD1):c.4566+116A>G rs76381514 0.00667
NM_015295.3(SMCHD1):c.1689G>A (p.Leu563=) rs78073508 0.00657
NM_015295.3(SMCHD1):c.2604-83A>G rs140531442 0.00613
NM_015295.3(SMCHD1):c.1132-175T>C rs73365813 0.00612
NM_015295.3(SMCHD1):c.639-138A>G rs148277348 0.00521
NM_015295.3(SMCHD1):c.2459-37G>A rs113998277 0.00520
NM_015295.3(SMCHD1):c.3426-112T>C rs148600037 0.00483
NM_015295.3(SMCHD1):c.2147-7C>T rs113524119 0.00473
NM_015295.3(SMCHD1):c.3801+209A>C rs116108559 0.00460
NM_015295.3(SMCHD1):c.*7A>G rs140650738 0.00458
NM_015295.3(SMCHD1):c.507+137A>G rs138332007 0.00450
NM_015295.3(SMCHD1):c.1419A>G (p.Glu473=) rs117771893 0.00426
NM_015295.3(SMCHD1):c.5993+135G>C rs144395718 0.00426
NM_015295.3(SMCHD1):c.1648-31A>G rs76103139 0.00423
NM_015295.3(SMCHD1):c.2774-108A>G rs565642461 0.00415
NM_015295.3(SMCHD1):c.2261-96C>T rs192281274 0.00375
NM_015295.3(SMCHD1):c.4808C>T (p.Thr1603Ile) rs147034750 0.00303
NM_015295.3(SMCHD1):c.424+10C>T rs201631086 0.00225
NM_015295.3(SMCHD1):c.1956+7C>T rs145755468 0.00201
NM_015295.3(SMCHD1):c.2913+6C>G rs186678728 0.00153
NM_015295.3(SMCHD1):c.985C>A (p.Pro329Thr) rs145233420 0.00119
NM_015295.3(SMCHD1):c.5878+8T>G rs144115061 0.00097
NM_015295.3(SMCHD1):c.150C>G (p.Arg50=) rs139872818 0.00086
NM_015295.3(SMCHD1):c.306G>A (p.Ser102=) rs7229488 0.00063
NM_015295.3(SMCHD1):c.3633+7C>T rs200391083 0.00060
NM_015295.3(SMCHD1):c.3636A>G (p.Glu1212=) rs372008124 0.00053
NM_015295.3(SMCHD1):c.789C>T (p.His263=) rs374899324 0.00046
NM_015295.3(SMCHD1):c.1957-3C>T rs201069969 0.00040
NM_015295.3(SMCHD1):c.2151G>A (p.Ala717=) rs372945746 0.00040
NM_015295.3(SMCHD1):c.5024A>G (p.His1675Arg) rs201071071 0.00039
NM_015295.3(SMCHD1):c.2838T>C (p.Ala946=) rs375251871 0.00037
NM_015295.3(SMCHD1):c.5006G>A (p.Arg1669Gln) rs368367743 0.00034
NM_015295.3(SMCHD1):c.2152T>C (p.Leu718=) rs112500113 0.00033
NM_015295.3(SMCHD1):c.4255A>G (p.Thr1419Ala) rs191487554 0.00029
NM_015295.3(SMCHD1):c.3209T>C (p.Ile1070Thr) rs113434340 0.00026
NM_015295.3(SMCHD1):c.3841A>G (p.Ile1281Val) rs201059575 0.00026
NM_015295.3(SMCHD1):c.5787A>G (p.Gln1929=) rs369084979 0.00026
NM_015295.3(SMCHD1):c.3527C>T (p.Thr1176Ile) rs553452960 0.00025
NM_015295.3(SMCHD1):c.1608A>G (p.Lys536=) rs72862973 0.00021
NM_015295.3(SMCHD1):c.4696G>A (p.Val1566Met) rs569043880 0.00021
NM_015295.3(SMCHD1):c.3346A>G (p.Thr1116Ala) rs377085725 0.00020
NM_015295.3(SMCHD1):c.2064-9T>C rs376058538 0.00019
NM_015295.3(SMCHD1):c.5155A>G (p.Ser1719Gly) rs201221497 0.00019
NM_015295.3(SMCHD1):c.4105G>A (p.Val1369Ile) rs375198512 0.00015
NM_015295.3(SMCHD1):c.3514+4A>G rs754405751 0.00014
NM_015295.3(SMCHD1):c.1086A>G (p.Ile362Met) rs201408220 0.00013
NM_015295.3(SMCHD1):c.2025G>A (p.Glu675=) rs766575963 0.00012
NM_015295.3(SMCHD1):c.4783C>G (p.Pro1595Ala) rs369179110 0.00012
NM_015295.3(SMCHD1):c.1290T>C (p.His430=) rs376328601 0.00010
NM_015295.3(SMCHD1):c.279T>G (p.Asp93Glu) rs201466122 0.00010
NM_015295.3(SMCHD1):c.2925T>A (p.Ala975=) rs763236583 0.00010
NM_015295.3(SMCHD1):c.4912G>A (p.Val1638Ile) rs370473143 0.00010
NM_015295.3(SMCHD1):c.5411T>C (p.Ile1804Thr) rs370249291 0.00009
NM_015295.3(SMCHD1):c.2606G>T (p.Gly869Val) rs548397345 0.00008
NM_015295.3(SMCHD1):c.2612C>A (p.Ser871Tyr) rs372975122 0.00008
NM_015295.3(SMCHD1):c.4135G>A (p.Ala1379Thr) rs1039632433 0.00008
NM_015295.3(SMCHD1):c.1031G>A (p.Arg344Gln) rs370983669 0.00007
NM_015295.3(SMCHD1):c.244A>G (p.Ile82Val) rs181045631 0.00007
NM_015295.3(SMCHD1):c.4109G>A (p.Arg1370His) rs185137363 0.00007
NM_015295.3(SMCHD1):c.3047C>T (p.Pro1016Leu) rs528154864 0.00006
NM_015295.3(SMCHD1):c.311A>G (p.Asn104Ser) rs375795924 0.00006
NM_015295.3(SMCHD1):c.4108C>T (p.Arg1370Cys) rs942559171 0.00006
NM_015295.3(SMCHD1):c.4161C>T (p.Phe1387=) rs553970445 0.00006
NM_015295.3(SMCHD1):c.4320C>T (p.Asp1440=) rs374154803 0.00006
NM_015295.3(SMCHD1):c.3414G>A (p.Ala1138=) rs778892054 0.00005
NM_015295.3(SMCHD1):c.3769C>T (p.Leu1257Phe) rs766226383 0.00005
NM_015295.3(SMCHD1):c.4461A>G (p.Gln1487=) rs763699437 0.00005
NM_015295.3(SMCHD1):c.1039G>A (p.Ala347Thr) rs776944618 0.00004
NM_015295.3(SMCHD1):c.2289G>A (p.Ser763=) rs58683258 0.00004
NM_015295.3(SMCHD1):c.2604-7T>C rs751707679 0.00004
NM_015295.3(SMCHD1):c.263A>G (p.Asp88Gly) rs200521548 0.00004
NM_015295.3(SMCHD1):c.288C>T (p.Thr96=) rs369550628 0.00004
NM_015295.3(SMCHD1):c.3023C>T (p.Thr1008Met) rs771100083 0.00004
NM_015295.3(SMCHD1):c.321A>G (p.Leu107=) rs567120742 0.00004
NM_015295.3(SMCHD1):c.3312G>C (p.Leu1104Phe) rs886042340 0.00004
NM_015295.3(SMCHD1):c.3340G>A (p.Val1114Ile) rs778206654 0.00004
NM_015295.3(SMCHD1):c.3435T>C (p.Pro1145=) rs747652827 0.00004
NM_015295.3(SMCHD1):c.3606T>C (p.Asp1202=) rs539377223 0.00004
NM_015295.3(SMCHD1):c.3868G>T (p.Asp1290Tyr) rs146798599 0.00004
NM_015295.3(SMCHD1):c.473G>A (p.Arg158His) rs531460906 0.00004
NM_015295.3(SMCHD1):c.5046A>G (p.Thr1682=) rs886043784 0.00004
NM_015295.3(SMCHD1):c.6005A>C (p.Lys2002Thr) rs959328 0.00004
NM_015295.3(SMCHD1):c.744A>G (p.Gln248=) rs746148722 0.00004
NM_015295.3(SMCHD1):c.920A>G (p.His307Arg) rs755508169 0.00004
NM_015295.3(SMCHD1):c.1186C>A (p.Gln396Lys) rs377471712 0.00003
NM_015295.3(SMCHD1):c.1191C>T (p.Asp397=) rs535674229 0.00003
NM_015295.3(SMCHD1):c.3251C>T (p.Thr1084Ile) rs371392245 0.00003
NM_015295.3(SMCHD1):c.3633+10C>T rs368857612 0.00003
NM_015295.3(SMCHD1):c.37T>G (p.Ser13Ala) rs751463286 0.00003
NM_015295.3(SMCHD1):c.40G>A (p.Val14Met) rs559283578 0.00003
NM_015295.3(SMCHD1):c.4306A>G (p.Ile1436Val) rs371280641 0.00003
NM_015295.3(SMCHD1):c.5126C>T (p.Ser1709Leu) rs151311806 0.00003
NM_015295.3(SMCHD1):c.5127G>A (p.Ser1709=) rs371834462 0.00003
NM_015295.3(SMCHD1):c.5281C>T (p.Arg1761Cys) rs370977174 0.00003
NM_015295.3(SMCHD1):c.5478A>G (p.Val1826=) rs886043464 0.00003
NM_015295.3(SMCHD1):c.5625C>T (p.Gly1875=) rs886044408 0.00003
NM_015295.3(SMCHD1):c.677G>A (p.Arg226His) rs1012435079 0.00003
NM_015295.3(SMCHD1):c.1479T>C (p.Thr493=) rs755868793 0.00002
NM_015295.3(SMCHD1):c.2507G>A (p.Arg836His) rs762661772 0.00002
NM_015295.3(SMCHD1):c.2945T>C (p.Val982Ala) rs944887850 0.00002
NM_015295.3(SMCHD1):c.3106G>A (p.Val1036Ile) rs183236583 0.00002
NM_015295.3(SMCHD1):c.3732T>C (p.Phe1244=) rs765602142 0.00002
NM_015295.3(SMCHD1):c.3890A>G (p.His1297Arg) rs932696032 0.00002
NM_015295.3(SMCHD1):c.4040A>G (p.Tyr1347Cys) rs774156694 0.00002
NM_015295.3(SMCHD1):c.4178G>C (p.Ser1393Thr) rs369758530 0.00002
NM_015295.3(SMCHD1):c.4281T>C (p.Asn1427=) rs757680634 0.00002
NM_015295.3(SMCHD1):c.4598T>C (p.Leu1533Ser) rs368255259 0.00002
NM_015295.3(SMCHD1):c.4599G>T (p.Leu1533Phe) rs770018521 0.00002
NM_015295.3(SMCHD1):c.4700A>G (p.Asn1567Ser) rs750920961 0.00002
NM_015295.3(SMCHD1):c.4786C>T (p.Arg1596Trp) rs746646525 0.00002
NM_015295.3(SMCHD1):c.4787G>A (p.Arg1596Gln) rs770649222 0.00002
NM_015295.3(SMCHD1):c.5526G>A (p.Ala1842=) rs760266416 0.00002
NM_015295.3(SMCHD1):c.1040+1G>A rs1245372794 0.00001
NM_015295.3(SMCHD1):c.1088G>A (p.Arg363Gln) rs1424377867 0.00001
NM_015295.3(SMCHD1):c.130C>A (p.Pro44Thr) rs1271107369 0.00001
NM_015295.3(SMCHD1):c.1390G>T (p.Ala464Ser) rs752328609 0.00001
NM_015295.3(SMCHD1):c.160G>A (p.Ala54Thr) rs1215654409 0.00001
NM_015295.3(SMCHD1):c.1647+7T>A rs1339306673 0.00001
NM_015295.3(SMCHD1):c.1654C>T (p.Arg552Ter) rs1224850132 0.00001
NM_015295.3(SMCHD1):c.1801G>T (p.Ala601Ser) rs886044519 0.00001
NM_015295.3(SMCHD1):c.1824A>G (p.Ile608Met) rs577011893 0.00001
NM_015295.3(SMCHD1):c.1905C>T (p.Gly635=) rs770290837 0.00001
NM_015295.3(SMCHD1):c.1996A>G (p.Ile666Val) rs529127480 0.00001
NM_015295.3(SMCHD1):c.2283T>C (p.Ile761=) rs773520979 0.00001
NM_015295.3(SMCHD1):c.2433T>G (p.Ser811=) rs760899591 0.00001
NM_015295.3(SMCHD1):c.2577T>C (p.Thr859=) rs1408054045 0.00001
NM_015295.3(SMCHD1):c.2660G>C (p.Gly887Ala) rs1460743863 0.00001
NM_015295.3(SMCHD1):c.2701-8T>C rs1324600079 0.00001
NM_015295.3(SMCHD1):c.3245A>G (p.Asn1082Ser) rs756368420 0.00001
NM_015295.3(SMCHD1):c.3277-5C>T rs542259388 0.00001
NM_015295.3(SMCHD1):c.3519A>G (p.Ile1173Met) rs536643888 0.00001
NM_015295.3(SMCHD1):c.3891T>C (p.His1297=) rs758075470 0.00001
NM_015295.3(SMCHD1):c.4087C>G (p.Pro1363Ala) rs367680898 0.00001
NM_015295.3(SMCHD1):c.4226G>A (p.Arg1409His) rs746741499 0.00001
NM_015295.3(SMCHD1):c.4294A>G (p.Ser1432Gly) rs764323722 0.00001
NM_015295.3(SMCHD1):c.4316A>G (p.Asn1439Ser) rs767898877 0.00001
NM_015295.3(SMCHD1):c.437C>T (p.Ala146Val) rs886043899 0.00001
NM_015295.3(SMCHD1):c.4517G>A (p.Arg1506His) rs756166672 0.00001
NM_015295.3(SMCHD1):c.482G>T (p.Gly161Val) rs376920153 0.00001
NM_015295.3(SMCHD1):c.4894C>G (p.Gln1632Glu) rs1365539591 0.00001
NM_015295.3(SMCHD1):c.5175+3T>C rs751445777 0.00001
NM_015295.3(SMCHD1):c.5291A>G (p.Tyr1764Cys) rs1167815943 0.00001
NM_015295.3(SMCHD1):c.5396T>G (p.Leu1799Trp) rs1008517374 0.00001
NM_015295.3(SMCHD1):c.5502C>G (p.Thr1834=) rs886042412 0.00001
NM_015295.3(SMCHD1):c.55G>C (p.Asp19His) rs748596758 0.00001
NM_015295.3(SMCHD1):c.5887C>G (p.Pro1963Ala) rs1345578577 0.00001
NM_015295.3(SMCHD1):c.5907C>G (p.Asp1969Glu) rs553815732 0.00001
NM_015295.3(SMCHD1):c.5914C>T (p.Arg1972Cys) rs778853203 0.00001
NM_015295.3(SMCHD1):c.5937G>A (p.Thr1979=) rs776794549 0.00001
NM_015295.3(SMCHD1):c.63A>G (p.Gly21=) rs772718353 0.00001
NM_015295.3(SMCHD1):c.90G>A (p.Leu30=) rs1555622278 0.00001
NM_015295.3(SMCHD1):c.953G>C (p.Ser318Thr) rs745495716 0.00001
NM_015295.3(SMCHD1):c.954C>T (p.Ser318=) rs769558309 0.00001
NM_015295.3(SMCHD1):c.994A>G (p.Ile332Val) rs748848954 0.00001
GRCh37/hg19 18p11.32(chr18:2690355-2776268)x3
GRCh37/hg19 18p11.32(chr18:2740714-2791071)x3
NM_015295.2(SMCHD1):c.2142dup (p.Ile715Tyrfs) rs1555635144
NM_015295.3(SMCHD1):c.1030C>T (p.Arg344Ter) rs886041918
NM_015295.3(SMCHD1):c.1049A>T (p.Tyr350Phe)
NM_015295.3(SMCHD1):c.1126A>T (p.Ile376Phe) rs185618962
NM_015295.3(SMCHD1):c.1132-146A>G rs62084202
NM_015295.3(SMCHD1):c.1138A>G (p.Met380Val) rs752031550
NM_015295.3(SMCHD1):c.1164G>A (p.Lys388=) rs778279069
NM_015295.3(SMCHD1):c.1186C>T (p.Gln396Ter) rs377471712
NM_015295.3(SMCHD1):c.1197G>T (p.Met399Ile) rs1555632930
NM_015295.3(SMCHD1):c.120del (p.Asp42fs) rs1555622310
NM_015295.3(SMCHD1):c.1216A>C (p.Thr406Pro)
NM_015295.3(SMCHD1):c.121G>A (p.Gly41Arg) rs1555622312
NM_015295.3(SMCHD1):c.1283G>T (p.Arg428Leu)
NM_015295.3(SMCHD1):c.1291C>T (p.Pro431Ser) rs2143155206
NM_015295.3(SMCHD1):c.1304A>G (p.Asp435Gly)
NM_015295.3(SMCHD1):c.1330T>G (p.Cys444Gly)
NM_015295.3(SMCHD1):c.1421del (p.Cys474fs) rs886043188
NM_015295.3(SMCHD1):c.1464-7G>C rs1347095679
NM_015295.3(SMCHD1):c.1473G>C (p.Trp491Cys)
NM_015295.3(SMCHD1):c.1473G>T (p.Trp491Cys) rs1568176024
NM_015295.3(SMCHD1):c.1487AGA[1] (p.Lys497del) rs886043345
NM_015295.3(SMCHD1):c.1566C>G (p.Ser522Arg) rs1555633547
NM_015295.3(SMCHD1):c.162G>A (p.Ala54=) rs766395572
NM_015295.3(SMCHD1):c.162G>T (p.Ala54=) rs766395572
NM_015295.3(SMCHD1):c.1647+245dup rs200431551
NM_015295.3(SMCHD1):c.1647+259dup rs60371199
NM_015295.3(SMCHD1):c.1648-3C>T
NM_015295.3(SMCHD1):c.1648-4_1648-3delinsTT rs2143213299
NM_015295.3(SMCHD1):c.1651C>T (p.Gln551Ter) rs2143213381
NM_015295.3(SMCHD1):c.1655G>A (p.Arg552Gln) rs886042392
NM_015295.3(SMCHD1):c.1672_1673del (p.Glu558fs) rs1568183325
NM_015295.3(SMCHD1):c.1768_1769delinsAA (p.Ser590Asn) rs886043386
NM_015295.3(SMCHD1):c.1807G>C (p.Glu603Gln)
NM_015295.3(SMCHD1):c.1810T>A (p.Trp604Arg) rs886042753
NM_015295.3(SMCHD1):c.1843-17del rs377473058
NM_015295.3(SMCHD1):c.1843-17dup rs377473058
NM_015295.3(SMCHD1):c.1843-1G>A rs886043146
NM_015295.3(SMCHD1):c.1843-8_1843-5del rs765362255
NM_015295.3(SMCHD1):c.1844T>G (p.Val615Gly) rs2143233414
NM_015295.3(SMCHD1):c.1848G>C (p.Lys616Asn) rs1568188312
NM_015295.3(SMCHD1):c.1867C>A (p.Leu623Ile) rs886042326
NM_015295.3(SMCHD1):c.187-110A>C rs9947882
NM_015295.3(SMCHD1):c.1872_1873del (p.Phe624fs) rs1568188407
NM_015295.3(SMCHD1):c.1891T>C (p.Phe631Leu) rs2143233975
NM_015295.3(SMCHD1):c.1916_1918del (p.Gly639del) rs1598342592
NM_015295.3(SMCHD1):c.1932A>G (p.Thr644=) rs930570856
NM_015295.3(SMCHD1):c.1976A>G (p.Asp659Gly)
NM_015295.3(SMCHD1):c.1987A>G (p.Thr663Ala)
NM_015295.3(SMCHD1):c.2014A>G (p.Thr672Ala)
NM_015295.3(SMCHD1):c.2033T>A (p.Val678Asp)
NM_015295.3(SMCHD1):c.2033T>C (p.Val678Ala)
NM_015295.3(SMCHD1):c.2064-200del rs375152655
NM_015295.3(SMCHD1):c.2071_2075del (p.Asp691fs) rs2143255167
NM_015295.3(SMCHD1):c.2147-4A>C rs777682119
NM_015295.3(SMCHD1):c.2176_2179del (p.Lys726fs)
NM_015295.3(SMCHD1):c.220A>G (p.Ile74Val)
NM_015295.3(SMCHD1):c.2260+335_2260+346dup rs79163865
NM_015295.3(SMCHD1):c.2260+3A>G
NM_015295.3(SMCHD1):c.2261-21TTTCTTT[3] rs780684469
NM_015295.3(SMCHD1):c.2338G>A (p.Glu780Lys) rs886044357
NM_015295.3(SMCHD1):c.2420G>A (p.Arg807Lys)
NM_015295.3(SMCHD1):c.2428C>T (p.Pro810Ser)
NM_015295.3(SMCHD1):c.2455A>C (p.Lys819Gln)
NM_015295.3(SMCHD1):c.2458+171G>T rs28446296
NM_015295.3(SMCHD1):c.2458+3A>C rs1555638164
NM_015295.3(SMCHD1):c.2603+288_2603+290del rs147857184
NM_015295.3(SMCHD1):c.2604-1G>T rs2143424506
NM_015295.3(SMCHD1):c.262+1G>T
NM_015295.3(SMCHD1):c.2637A>C (p.Lys879Asn) rs633422
NM_015295.3(SMCHD1):c.2688T>G (p.Ser896=)
NM_015295.3(SMCHD1):c.2700+275A>G rs673364
NM_015295.3(SMCHD1):c.2701-211C>A rs62084253
NM_015295.3(SMCHD1):c.2701-8del rs886044517
NM_015295.3(SMCHD1):c.2701-8dup rs886044517
NM_015295.3(SMCHD1):c.2750T>A (p.Ile917Asn)
NM_015295.3(SMCHD1):c.2772_2773+2dup
NM_015295.3(SMCHD1):c.2818G>A (p.Val940Ile) rs779974698
NM_015295.3(SMCHD1):c.2822T>C (p.Ile941Thr)
NM_015295.3(SMCHD1):c.2823A>G (p.Ile941Met) rs2075068734
NM_015295.3(SMCHD1):c.2861T>C (p.Leu954Ser)
NM_015295.3(SMCHD1):c.2913+157_2913+158del rs67636305
NM_015295.3(SMCHD1):c.2913+158del rs67636305
NM_015295.3(SMCHD1):c.2914-311dup rs370623037
NM_015295.3(SMCHD1):c.2914-312_2914-311dup rs370623037
NM_015295.3(SMCHD1):c.2914-8T>C rs886043095
NM_015295.3(SMCHD1):c.2934T>G (p.Leu978=)
NM_015295.3(SMCHD1):c.2953T>G (p.Cys985Gly)
NM_015295.3(SMCHD1):c.296T>C (p.Leu99Pro) rs1598284093
NM_015295.3(SMCHD1):c.2T>G (p.Met1Arg) rs1555622203
NM_015295.3(SMCHD1):c.3024G>T (p.Thr1008=) rs781311866
NM_015295.3(SMCHD1):c.3030A>G (p.Lys1010=)
NM_015295.3(SMCHD1):c.3048+298C>T rs66771342
NM_015295.3(SMCHD1):c.3048+312_3048+314dup rs72203094
NM_015295.3(SMCHD1):c.3048+314del rs72203094
NM_015295.3(SMCHD1):c.3049-2A>G rs2143484371
NM_015295.3(SMCHD1):c.3058G>T (p.Asp1020Tyr)
NM_015295.3(SMCHD1):c.3099T>C (p.Ser1033=)
NM_015295.3(SMCHD1):c.3148A>T (p.Ile1050Phe) rs1568260824
NM_015295.3(SMCHD1):c.3197del (p.Met1066fs) rs1568261067
NM_015295.3(SMCHD1):c.319C>T (p.Leu107=) rs769766392
NM_015295.3(SMCHD1):c.3238_3239del (p.Glu1080fs) rs886043182
NM_015295.3(SMCHD1):c.3247A>G (p.Ile1083Val)
NM_015295.3(SMCHD1):c.3276+177A>T rs62084258
NM_015295.3(SMCHD1):c.3276+4_3276+7del rs2075161499
NM_015295.3(SMCHD1):c.3276_3276+4del rs1555642277
NM_015295.3(SMCHD1):c.3277-283C>T rs11080986
NM_015295.3(SMCHD1):c.3283T>G (p.Trp1095Gly)
NM_015295.3(SMCHD1):c.3307C>T (p.His1103Tyr)
NM_015295.3(SMCHD1):c.3316C>G (p.Gln1106Glu)
NM_015295.3(SMCHD1):c.332C>T (p.Thr111Met)
NM_015295.3(SMCHD1):c.3349T>G (p.Ser1117Ala)
NM_015295.3(SMCHD1):c.3381A>G (p.Ser1127=) rs747331582
NM_015295.3(SMCHD1):c.3425+10C>A rs1555644115
NM_015295.3(SMCHD1):c.3426-5T>G
NM_015295.3(SMCHD1):c.3444T>A (p.Pro1148=) rs76290319
NM_015295.3(SMCHD1):c.3451T>C (p.Leu1151=) rs759659672
NM_015295.3(SMCHD1):c.3491G>A (p.Gly1164Asp)
NM_015295.3(SMCHD1):c.3514+7A>G rs886044081
NM_015295.3(SMCHD1):c.3527_3528inv (p.Thr1176Met)
NM_015295.3(SMCHD1):c.3583_3584delinsCA (p.Ser1195Gln) rs2143547958
NM_015295.3(SMCHD1):c.35_45dup (p.Thr16fs)
NM_015295.3(SMCHD1):c.3625A>G (p.Thr1209Ala) rs745810454
NM_015295.3(SMCHD1):c.3634-10dup rs763101269
NM_015295.3(SMCHD1):c.3634-1G>C rs886042282
NM_015295.3(SMCHD1):c.3634-35C>T rs59023685
NM_015295.3(SMCHD1):c.3715C>T (p.Arg1239Cys) rs771294371
NM_015295.3(SMCHD1):c.3718G>C (p.Glu1240Gln) rs886044366
NM_015295.3(SMCHD1):c.3730T>C (p.Phe1244Leu)
NM_015295.3(SMCHD1):c.3763G>T (p.Ala1255Ser)
NM_015295.3(SMCHD1):c.3787C>T (p.Pro1263Ser)
NM_015295.3(SMCHD1):c.3788C>T (p.Pro1263Leu) rs2143570854
NM_015295.3(SMCHD1):c.3801+1G>A rs886042417
NM_015295.3(SMCHD1):c.3804C>T (p.Ser1268=) rs1598399244
NM_015295.3(SMCHD1):c.3838C>A (p.Pro1280Thr) rs1322896954
NM_015295.3(SMCHD1):c.3908C>A (p.Thr1303Lys)
NM_015295.3(SMCHD1):c.3908C>G (p.Thr1303Arg)
NM_015295.3(SMCHD1):c.3938C>G (p.Ser1313Ter)
NM_015295.3(SMCHD1):c.4007+1G>A rs2143616842
NM_015295.3(SMCHD1):c.4007+63G>A
NM_015295.3(SMCHD1):c.4008-7_4008-3del rs760383946
NM_015295.3(SMCHD1):c.4100A>G (p.Lys1367Arg) rs2143618974
NM_015295.3(SMCHD1):c.4126G>A (p.Asp1376Asn)
NM_015295.3(SMCHD1):c.4130A>G (p.Lys1377Arg)
NM_015295.3(SMCHD1):c.4135_4137delinsACG (p.Ala1379Thr) rs1568306321
NM_015295.3(SMCHD1):c.4153G>A (p.Gly1385Ser) rs774329481
NM_015295.3(SMCHD1):c.4153G>T (p.Gly1385Cys) rs774329481
NM_015295.3(SMCHD1):c.4165+149G>A
NM_015295.3(SMCHD1):c.4165+301C>T rs62077668
NM_015295.3(SMCHD1):c.4166-1G>T rs886042327
NM_015295.3(SMCHD1):c.424+1G>A rs1555625396
NM_015295.3(SMCHD1):c.4254T>G (p.Ser1418=)
NM_015295.3(SMCHD1):c.4267C>T (p.Arg1423Ter)
NM_015295.3(SMCHD1):c.4281+246T>C rs7237908
NM_015295.3(SMCHD1):c.4282-5dup rs752013568
NM_015295.3(SMCHD1):c.4338C>A (p.Phe1446Leu)
NM_015295.3(SMCHD1):c.4492C>T (p.Pro1498Ser) rs767117563
NM_015295.3(SMCHD1):c.4566+275del rs10708453
NM_015295.3(SMCHD1):c.4566+275dup rs10708453
NM_015295.3(SMCHD1):c.4566G>A (p.Thr1522=) rs1598416221
NM_015295.3(SMCHD1):c.4567-85G>C rs112622633
NM_015295.3(SMCHD1):c.4567-9dup rs772038791
NM_015295.3(SMCHD1):c.4633A>G (p.Asn1545Asp) rs886044429
NM_015295.3(SMCHD1):c.4638G>A (p.Glu1546=) rs1568336400
NM_015295.3(SMCHD1):c.4652C>T (p.Thr1551Ile)
NM_015295.3(SMCHD1):c.4695C>T (p.Phe1565=) rs757300247
NM_015295.3(SMCHD1):c.4719+1G>A rs886044369
NM_015295.3(SMCHD1):c.4733_4736dup (p.Glu1579fs) rs1555651730
NM_015295.3(SMCHD1):c.4738A>G (p.Ser1580Gly) rs886044485
NM_015295.3(SMCHD1):c.4747G>A (p.Gly1583Arg)
NM_015295.3(SMCHD1):c.4799dup (p.Leu1600fs) rs867598503
NM_015295.3(SMCHD1):c.47C>T (p.Thr16Ile)
NM_015295.3(SMCHD1):c.4803A>G (p.Ser1601=) rs1568350613
NM_015295.3(SMCHD1):c.4822A>G (p.Ile1608Val)
NM_015295.3(SMCHD1):c.4827A>G (p.Leu1609=) rs774077792
NM_015295.3(SMCHD1):c.4847-1G>T
NM_015295.3(SMCHD1):c.4879dup (p.Thr1627fs) rs886044257
NM_015295.3(SMCHD1):c.488GAA[1] (p.Arg164del) rs1598293848
NM_015295.3(SMCHD1):c.4898T>G (p.Leu1633Ter) rs886044419
NM_015295.3(SMCHD1):c.4915A>G (p.Met1639Val) rs1555651856
NM_015295.3(SMCHD1):c.495A>G (p.Ile165Met) rs1555626822
NM_015295.3(SMCHD1):c.5006G>T (p.Arg1669Leu) rs368367743
NM_015295.3(SMCHD1):c.5020del (p.Ile1674fs) rs886044129
NM_015295.3(SMCHD1):c.5022A>G (p.Ile1674Met)
NM_015295.3(SMCHD1):c.5038C>G (p.Pro1680Ala) rs769986044
NM_015295.3(SMCHD1):c.5052+2T>C
NM_015295.3(SMCHD1):c.5052+52A>G
NM_015295.3(SMCHD1):c.5064T>G (p.Ile1688Met)
NM_015295.3(SMCHD1):c.5072T>G (p.Leu1691Arg) rs886043181
NM_015295.3(SMCHD1):c.508-5C>T
NM_015295.3(SMCHD1):c.5127G>T (p.Ser1709=) rs371834462
NM_015295.3(SMCHD1):c.5142C>G (p.Asn1714Lys)
NM_015295.3(SMCHD1):c.5164G>A (p.Val1722Ile) rs2075998748
NM_015295.3(SMCHD1):c.5175G>T (p.Lys1725Asn) rs763696893
NM_015295.3(SMCHD1):c.5176-208del rs35375743
NM_015295.3(SMCHD1):c.5253T>C (p.Cys1751=) rs1172138387
NM_015295.3(SMCHD1):c.5279C>T (p.Ala1760Val)
NM_015295.3(SMCHD1):c.5284C>A (p.Arg1762Ser) rs202006154
NM_015295.3(SMCHD1):c.5285G>A (p.Arg1762His)
NM_015295.3(SMCHD1):c.5286dup (p.Ile1763fs)
NM_015295.3(SMCHD1):c.5383C>T (p.Arg1795Ter) rs867694014
NM_015295.3(SMCHD1):c.5416G>A (p.Asp1806Asn) rs886044362
NM_015295.3(SMCHD1):c.5428G>C (p.Ala1810Pro)
NM_015295.3(SMCHD1):c.5527G>A (p.Ala1843Thr) rs867875905
NM_015295.3(SMCHD1):c.5545G>A (p.Glu1849Lys)
NM_015295.3(SMCHD1):c.5547+1G>C rs1555654127
NM_015295.3(SMCHD1):c.5548-60C>T
NM_015295.3(SMCHD1):c.5568T>A (p.Cys1856Ter) rs1568383892
NM_015295.3(SMCHD1):c.5597G>A (p.Arg1866Gln) rs886044586
NM_015295.3(SMCHD1):c.5606G>A (p.Ser1869Asn)
NM_015295.3(SMCHD1):c.5647A>G (p.Met1883Val) rs776598393
NM_015295.3(SMCHD1):c.5720-2A>C
NM_015295.3(SMCHD1):c.5738G>A (p.Arg1913His)
NM_015295.3(SMCHD1):c.5743G>T (p.Ala1915Ser) rs1568408187
NM_015295.3(SMCHD1):c.5757A>G (p.Leu1919=) rs886043263
NM_015295.3(SMCHD1):c.5782dup (p.Ser1928fs) rs1555658855
NM_015295.3(SMCHD1):c.5804C>G (p.Thr1935Ser) rs886043895
NM_015295.3(SMCHD1):c.5858A>G (p.Lys1953Arg)
NM_015295.3(SMCHD1):c.5878+9T>C rs1555658928
NM_015295.3(SMCHD1):c.5879-3C>T
NM_015295.3(SMCHD1):c.5879-5_5894dup rs1282620693
NM_015295.3(SMCHD1):c.5893C>T (p.Arg1965Cys)
NM_015295.3(SMCHD1):c.5894G>A (p.Arg1965His)
NM_015295.3(SMCHD1):c.5894G>C (p.Arg1965Pro) rs755578313
NM_015295.3(SMCHD1):c.5923C>T (p.Pro1975Ser) rs886042874
NM_015295.3(SMCHD1):c.5958T>A (p.Pro1986=) rs886042374
NM_015295.3(SMCHD1):c.599A>G (p.Tyr200Cys)
NM_015295.3(SMCHD1):c.625G>A (p.Gly209Ser)
NM_015295.3(SMCHD1):c.638+154A>C
NM_015295.3(SMCHD1):c.638+1G>A
NM_015295.3(SMCHD1):c.639-229C>A rs1561820
NM_015295.3(SMCHD1):c.659G>C (p.Arg220Pro)
NM_015295.3(SMCHD1):c.727_730del (p.Val243fs) rs2143048943
NM_015295.3(SMCHD1):c.753+10_753+11del rs1167194316
NM_015295.3(SMCHD1):c.80C>T (p.Thr27Met)
NM_015295.3(SMCHD1):c.810A>T (p.Glu270Asp)
NM_015295.3(SMCHD1):c.820AAG[1] (p.Lys275del) rs746679988
NM_015295.3(SMCHD1):c.846A>G (p.Ile282Met) rs886044033
NM_015295.3(SMCHD1):c.848A>G (p.Tyr283Cys) rs886041921
NM_015295.3(SMCHD1):c.853G>A (p.Gly285Arg) rs1568144816
NM_015295.3(SMCHD1):c.94G>A (p.Asp32Asn)
NM_015295.3(SMCHD1):c.977G>A (p.Gly326Glu) rs2143119041

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