ClinVar Miner

List of variants in gene SMCHD1 reported as benign

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Gene type:
ClinVar version:
Total variants: 172
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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.2701-217C>G rs74885792 0.02487
NM_015295.3(SMCHD1):c.1843-18T>A rs116599328 0.02018
NM_015295.3(SMCHD1):c.3802-16T>G rs79829175 0.01859
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.873+7T>C rs114242799 0.00957
NM_015295.3(SMCHD1):c.4165+109_4165+110del rs534997178 0.00869
NM_015295.3(SMCHD1):c.1689G>A (p.Leu563=) rs78073508 0.00657
NM_015295.3(SMCHD1):c.2147-7C>T rs113524119 0.00473
NM_015295.3(SMCHD1):c.*7A>G rs140650738 0.00458
NM_015295.3(SMCHD1):c.1419A>G (p.Glu473=) rs117771893 0.00426
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.4104C>T (p.Pro1368=) rs117794949 0.00181
NM_015295.3(SMCHD1):c.2913+6C>G rs186678728 0.00153
NM_015295.3(SMCHD1):c.5878+12C>G rs148698681 0.00138
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.4521A>G (p.Ser1507=) rs201821082 0.00053
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.2838T>C (p.Ala946=) rs375251871 0.00037
NM_015295.3(SMCHD1):c.3872A>G (p.Asn1291Ser) rs201497685 0.00017
NM_015295.3(SMCHD1):c.3138A>T (p.Gly1046=) rs138078408 0.00010
NM_015295.3(SMCHD1):c.522A>G (p.Thr174=) rs370798030 0.00010
NM_015295.3(SMCHD1):c.1731A>G (p.Thr577=) rs369778016 0.00009
NM_015295.3(SMCHD1):c.2147-5C>T rs184984483 0.00008
NM_015295.3(SMCHD1):c.321A>G (p.Leu107=) rs567120742 0.00004
NM_015295.3(SMCHD1):c.3519A>G (p.Ile1173Met) rs536643888 0.00001
GRCh37/hg19 18p11.32(chr18:2740714-2791071)x3
NM_015295.3(SMCHD1):c.1132-146A>G rs62084202
NM_015295.3(SMCHD1):c.1647+245dup rs200431551
NM_015295.3(SMCHD1):c.1647+259dup rs60371199
NM_015295.3(SMCHD1):c.1647+28A>G
NM_015295.3(SMCHD1):c.1843-12del
NM_015295.3(SMCHD1):c.1843-17del rs377473058
NM_015295.3(SMCHD1):c.1843-17dup rs377473058
NM_015295.3(SMCHD1):c.187-110A>C rs9947882
NM_015295.3(SMCHD1):c.2260+335_2260+346dup rs79163865
NM_015295.3(SMCHD1):c.2458+171G>T rs28446296
NM_015295.3(SMCHD1):c.2603+288_2603+290del rs147857184
NM_015295.3(SMCHD1):c.2604-7del rs142973168
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.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.3048+298C>T rs66771342
NM_015295.3(SMCHD1):c.3048+312_3048+314dup rs72203094
NM_015295.3(SMCHD1):c.3276+177A>T rs62084258
NM_015295.3(SMCHD1):c.3277-283C>T rs11080986
NM_015295.3(SMCHD1):c.3444T>A (p.Pro1148=) rs76290319
NM_015295.3(SMCHD1):c.3634-10dup rs763101269
NM_015295.3(SMCHD1):c.3634-35C>T rs59023685
NM_015295.3(SMCHD1):c.4165+301C>T rs62077668
NM_015295.3(SMCHD1):c.4166-14G>A
NM_015295.3(SMCHD1):c.4281+246T>C rs7237908
NM_015295.3(SMCHD1):c.4434+17del rs781729128
NM_015295.3(SMCHD1):c.4434+17dup
NM_015295.3(SMCHD1):c.4566+275del rs10708453
NM_015295.3(SMCHD1):c.4566+275dup rs10708453
NM_015295.3(SMCHD1):c.4567-9dup rs772038791
NM_015295.3(SMCHD1):c.4847-6del rs763328487
NM_015295.3(SMCHD1):c.4847-6dup rs763328487
NM_015295.3(SMCHD1):c.5052+33dup rs3214732
NM_015295.3(SMCHD1):c.5175+22del
NM_015295.3(SMCHD1):c.5176-208del rs35375743
NM_015295.3(SMCHD1):c.5476+9C>T
NM_015295.3(SMCHD1):c.5477-3dup
NM_015295.3(SMCHD1):c.5878+17del
NM_015295.3(SMCHD1):c.638+27del rs74270564
NM_015295.3(SMCHD1):c.638+27dup
NM_015295.3(SMCHD1):c.639-229C>A rs1561820

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