ClinVar Miner

List of variants in gene DIAPH1 studied for not provided

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Gene type:
ClinVar version:
Total variants: 266
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HGVS dbSNP gnomAD frequency
NM_005219.5(DIAPH1):c.1462-241T>C rs6879677 0.68024
NM_005219.5(DIAPH1):c.1461+20G>A rs2302103 0.67950
NM_005219.5(DIAPH1):c.1164-308T>G rs2074914 0.20366
NM_005219.5(DIAPH1):c.2581+240A>T rs79212106 0.12007
NM_005219.5(DIAPH1):c.2358+63G>A rs183044866 0.10482
NM_005219.5(DIAPH1):c.1642-156G>A rs45515193 0.08566
NM_005219.5(DIAPH1):c.1642-251T>C rs77605361 0.06293
NM_005219.5(DIAPH1):c.117+14C>T rs2074913 0.05773
NM_005219.5(DIAPH1):c.390C>T (p.Tyr130=) rs34296458 0.03749
NM_005219.5(DIAPH1):c.3579C>T (p.Gly1193=) rs2302102 0.02275
NM_005219.5(DIAPH1):c.402+101A>G rs73794934 0.01346
NM_005219.5(DIAPH1):c.3661+69C>T rs113373216 0.01233
NM_005219.5(DIAPH1):c.1164-186T>C rs142812798 0.01209
NM_005219.5(DIAPH1):c.3575-78T>G rs145027704 0.01209
NM_005219.5(DIAPH1):c.3574+291A>G rs143691978 0.01208
NM_005219.5(DIAPH1):c.620+176C>T rs55900860 0.01200
NM_005219.5(DIAPH1):c.1641+77C>T rs75981295 0.01182
NM_005219.5(DIAPH1):c.1397-174G>A rs78658438 0.01177
NM_005219.5(DIAPH1):c.1641+241C>G rs75909137 0.01149
NM_005219.5(DIAPH1):c.685-204C>G rs75470903 0.01147
NM_005219.5(DIAPH1):c.3662-24A>G rs72790081 0.01104
NM_005219.5(DIAPH1):c.3149-1G>T rs80342520 0.01089
NM_005219.5(DIAPH1):c.3439-27G>A rs115666914 0.01024
NM_005219.5(DIAPH1):c.1281-147T>G rs112830605 0.01010
NM_005219.5(DIAPH1):c.1461+213G>A rs115307198 0.01009
NM_005219.5(DIAPH1):c.2358+143C>T rs191644283 0.00976
NM_005219.5(DIAPH1):c.3148+178T>C rs114999642 0.00915
NC_000005.10:g.141619237G>T rs544866243 0.00867
NM_005219.5(DIAPH1):c.117+181C>G rs573118981 0.00867
NM_005219.5(DIAPH1):c.621-19T>C rs181224861 0.00828
NM_005219.5(DIAPH1):c.3273+65G>A rs192765219 0.00826
NM_005219.5(DIAPH1):c.825-221A>G rs146220673 0.00820
NM_005219.5(DIAPH1):c.824+164T>C rs191766712 0.00819
NM_005219.5(DIAPH1):c.3149-79T>C rs150503048 0.00781
NM_005219.5(DIAPH1):c.3149-96G>A rs74493399 0.00575
NM_005219.5(DIAPH1):c.2358+229G>A rs189404098 0.00556
NM_005219.5(DIAPH1):c.117+238C>T rs553186477 0.00529
NM_005219.5(DIAPH1):c.2482+122G>C rs75186142 0.00529
NM_005219.5(DIAPH1):c.1641+51T>G rs75746518 0.00528
NM_005219.5(DIAPH1):c.1045-20T>A rs75686999 0.00527
NM_005219.5(DIAPH1):c.620+169A>G rs180792286 0.00406
NM_005219.5(DIAPH1):c.2474-28T>C rs143272169 0.00388
NM_005219.5(DIAPH1):c.2482+70G>C rs114161067 0.00385
NM_005219.5(DIAPH1):c.*217C>T rs55934506 0.00382
NM_005219.5(DIAPH1):c.2483-57G>A rs145976094 0.00364
NM_005219.5(DIAPH1):c.3227T>G (p.Phe1076Cys) rs143763573 0.00356
NM_005219.5(DIAPH1):c.891G>A (p.Pro297=) rs116463365 0.00354
NM_005219.5(DIAPH1):c.144+40T>C rs78541912 0.00275
NM_005219.5(DIAPH1):c.3661+34G>A rs75229850 0.00261
NM_005219.5(DIAPH1):c.1407T>C (p.Ile469=) rs75860159 0.00222
NM_005219.5(DIAPH1):c.1985G>A (p.Gly662Asp) rs200735096 0.00207
NM_005219.5(DIAPH1):c.117+285C>T rs188152577 0.00205
NM_005219.5(DIAPH1):c.2474-25C>T rs201245061 0.00163
NM_005219.5(DIAPH1):c.824+28C>G rs145381797 0.00158
NM_005219.5(DIAPH1):c.2483-30A>G rs375605784 0.00151
NM_005219.5(DIAPH1):c.1736G>A (p.Arg579His) rs182139018 0.00147
NM_005219.5(DIAPH1):c.1423G>A (p.Glu475Lys) rs193036129 0.00123
NM_005219.5(DIAPH1):c.-21C>T rs747985248 0.00116
NM_005219.5(DIAPH1):c.*16C>T rs202086273 0.00096
NM_005219.5(DIAPH1):c.2437G>A (p.Ala813Thr) rs147203145 0.00088
NM_005219.5(DIAPH1):c.620+48G>C rs192251010 0.00075
NM_005219.5(DIAPH1):c.620+44A>G rs373320373 0.00074
NM_005219.5(DIAPH1):c.*88C>T rs574596779 0.00056
NM_005219.5(DIAPH1):c.1748C>G (p.Pro583Arg) rs201719002 0.00055
NM_005219.5(DIAPH1):c.*5G>T rs368263785 0.00051
NM_005219.5(DIAPH1):c.3050T>C (p.Met1017Thr) rs376220834 0.00043
NM_005219.5(DIAPH1):c.3155C>T (p.Ala1052Val) rs1360966087 0.00043
NM_005219.5(DIAPH1):c.2158C>T (p.Leu720Phe) rs200606811 0.00042
NM_005219.5(DIAPH1):c.3574+10G>A rs200327015 0.00037
NM_005219.5(DIAPH1):c.2224C>G (p.Pro742Ala) rs199749212 0.00036
NM_005219.5(DIAPH1):c.687T>C (p.Phe229=) rs201149420 0.00034
NM_005219.5(DIAPH1):c.1784T>C (p.Ile595Thr) rs374299911 0.00033
NM_005219.5(DIAPH1):c.2032C>T (p.Pro678Ser) rs186370335 0.00030
NM_005219.5(DIAPH1):c.685-5A>G rs367786290 0.00023
NM_005219.5(DIAPH1):c.2676+21G>A rs181410965 0.00021
NM_005219.5(DIAPH1):c.200C>T (p.Ala67Val) rs142480526 0.00018
NM_005219.5(DIAPH1):c.343G>A (p.Glu115Lys) rs371994484 0.00017
NM_005219.5(DIAPH1):c.969A>G (p.Thr323=) rs369453319 0.00017
NM_005219.5(DIAPH1):c.3096C>T (p.Pro1032=) rs369299884 0.00016
NM_005219.5(DIAPH1):c.2107C>G (p.Pro703Ala) rs201433617 0.00015
NM_005219.5(DIAPH1):c.3463C>T (p.Arg1155Trp) rs369467830 0.00014
NM_005219.5(DIAPH1):c.1964C>G (p.Pro655Arg) rs367669306 0.00013
NM_005219.5(DIAPH1):c.3230C>G (p.Pro1077Arg) rs376593325 0.00013
NM_005219.5(DIAPH1):c.-3G>C rs755880347 0.00011
NM_005219.5(DIAPH1):c.259G>A (p.Val87Ile) rs368889655 0.00011
NM_005219.5(DIAPH1):c.3313C>T (p.Arg1105Trp) rs781577050 0.00011
NM_005219.5(DIAPH1):c.1093T>C (p.Phe365Leu) rs750318437 0.00009
NM_005219.5(DIAPH1):c.117+8T>A rs548327056 0.00009
NM_005219.5(DIAPH1):c.3051G>A (p.Met1017Ile) rs373275414 0.00009
NM_005219.5(DIAPH1):c.2778+27G>T rs188955528 0.00007
NM_005219.5(DIAPH1):c.2902C>T (p.Arg968Cys) rs777195456 0.00007
NM_005219.5(DIAPH1):c.-49A>C rs570498572 0.00006
NM_005219.5(DIAPH1):c.1659G>A (p.Lys553=) rs200506473 0.00006
NM_005219.5(DIAPH1):c.217G>A (p.Ala73Thr) rs184081055 0.00006
NM_005219.5(DIAPH1):c.3149-24T>G rs570454306 0.00006
NM_005219.5(DIAPH1):c.627C>T (p.Tyr209=) rs369494682 0.00006
NM_005219.5(DIAPH1):c.2668A>G (p.Met890Val) rs200251893 0.00005
NM_005219.5(DIAPH1):c.3314G>A (p.Arg1105Gln) rs770668053 0.00005
NM_005219.5(DIAPH1):c.579C>T (p.Asp193=) rs202061556 0.00005
NM_005219.5(DIAPH1):c.922A>G (p.Ile308Val) rs752555506 0.00005
NM_005219.5(DIAPH1):c.2200G>A (p.Gly734Arg) rs374788809 0.00004
NM_005219.5(DIAPH1):c.2273C>T (p.Pro758Leu) rs762969077 0.00004
NM_005219.5(DIAPH1):c.3809G>A (p.Arg1270His) rs371664456 0.00004
NM_005219.5(DIAPH1):c.453G>A (p.Glu151=) rs749681806 0.00004
NM_005219.5(DIAPH1):c.2261G>A (p.Gly754Glu) rs565706367 0.00003
NM_005219.5(DIAPH1):c.1458G>A (p.Lys486=) rs562629411 0.00002
NM_005219.5(DIAPH1):c.2473+63T>A rs141733452 0.00002
NM_005219.5(DIAPH1):c.2889A>G (p.Ala963=) rs770304914 0.00002
NM_005219.5(DIAPH1):c.3467G>A (p.Arg1156Gln) rs764296073 0.00002
NM_005219.5(DIAPH1):c.3675C>T (p.Ala1225=) rs371385202 0.00002
NM_005219.5(DIAPH1):c.767T>C (p.Met256Thr) rs532196989 0.00002
NM_005219.5(DIAPH1):c.1201G>C (p.Val401Leu) rs367592859 0.00001
NM_005219.5(DIAPH1):c.1262G>A (p.Arg421Gln) rs754559074 0.00001
NM_005219.5(DIAPH1):c.1271A>G (p.Tyr424Cys) rs895429714 0.00001
NM_005219.5(DIAPH1):c.1338C>T (p.Asn446=) rs746584977 0.00001
NM_005219.5(DIAPH1):c.1339G>A (p.Gly447Arg) rs779687295 0.00001
NM_005219.5(DIAPH1):c.1482C>A (p.Ala494=) rs765531203 0.00001
NM_005219.5(DIAPH1):c.1543G>C (p.Asp515His) rs759051179 0.00001
NM_005219.5(DIAPH1):c.1601A>G (p.Lys534Arg) rs758517099 0.00001
NM_005219.5(DIAPH1):c.1979G>T (p.Gly660Val) rs756837198 0.00001
NM_005219.5(DIAPH1):c.2525A>C (p.Gln842Pro) rs200220260 0.00001
NM_005219.5(DIAPH1):c.2758T>C (p.Ser920Pro) rs746418816 0.00001
NM_005219.5(DIAPH1):c.2801G>A (p.Arg934Gln) rs758893826 0.00001
NM_005219.5(DIAPH1):c.2813A>G (p.Asn938Ser) rs1040008297 0.00001
NM_005219.5(DIAPH1):c.3027C>T (p.Asp1009=) rs555292453 0.00001
NM_005219.5(DIAPH1):c.3360G>A (p.Glu1120=) rs727504670 0.00001
NM_005219.5(DIAPH1):c.3425G>A (p.Arg1142Gln) rs200419320 0.00001
NM_005219.5(DIAPH1):c.344A>G (p.Glu115Gly) rs762848470 0.00001
NM_005219.5(DIAPH1):c.3465G>A (p.Arg1155=) rs377665243 0.00001
NM_005219.5(DIAPH1):c.3519G>A (p.Glu1173=) rs1241177697 0.00001
NM_005219.5(DIAPH1):c.3552G>A (p.Glu1184=) rs1455848656 0.00001
NM_005219.5(DIAPH1):c.88G>A (p.Gly30Ser) rs1034109754 0.00001
NM_005219.5(DIAPH1):c.99C>T (p.Gly33=) rs773440011 0.00001
NC_000005.10:g.141619209dup rs150947625
NM_005219.5(DIAPH1):c.*1765_*1766dup rs539203577
NM_005219.5(DIAPH1):c.*367C>G rs148686869
NM_005219.5(DIAPH1):c.*932dup rs550954506
NM_005219.5(DIAPH1):c.1018C>T (p.Arg340Cys) rs754730261
NM_005219.5(DIAPH1):c.1051C>T (p.Arg351Ter)
NM_005219.5(DIAPH1):c.1151G>A (p.Arg384His) rs200927557
NM_005219.5(DIAPH1):c.1155G>A (p.Met385Ile)
NM_005219.5(DIAPH1):c.1164-35AT[3] rs143356915
NM_005219.5(DIAPH1):c.1170T>C (p.Phe390=)
NM_005219.5(DIAPH1):c.118-223C>T rs879188613
NM_005219.5(DIAPH1):c.118-224del rs368869644
NM_005219.5(DIAPH1):c.118-240dup rs368869644
NM_005219.5(DIAPH1):c.1212A>T (p.Ser404=)
NM_005219.5(DIAPH1):c.1287G>A (p.Gln429=) rs748159908
NM_005219.5(DIAPH1):c.12C>T (p.Pro4=)
NM_005219.5(DIAPH1):c.1397-14CTT[2] rs771642064
NM_005219.5(DIAPH1):c.1409A>G (p.Asp470Gly) rs1596381822
NM_005219.5(DIAPH1):c.1439A>G (p.Lys480Arg) rs547070097
NM_005219.5(DIAPH1):c.1461+5A>G
NM_005219.5(DIAPH1):c.1512G>C (p.Lys504Asn)
NM_005219.5(DIAPH1):c.1570C>T (p.His524Tyr) rs1453865659
NM_005219.5(DIAPH1):c.1600A>G (p.Lys534Glu)
NM_005219.5(DIAPH1):c.1708A>G (p.Ile570Val) rs886042233
NM_005219.5(DIAPH1):c.1735C>T (p.Arg579Cys)
NM_005219.5(DIAPH1):c.1744G>A (p.Val582Ile)
NM_005219.5(DIAPH1):c.1750C>A (p.Pro584Thr)
NM_005219.5(DIAPH1):c.1769G>A (p.Gly590Asp) rs189809247
NM_005219.5(DIAPH1):c.1769G>T (p.Gly590Val) rs189809247
NM_005219.5(DIAPH1):c.1795C>A (p.Pro599Thr)
NM_005219.5(DIAPH1):c.1821TCC[10] (p.Pro620del) rs3075570
NM_005219.5(DIAPH1):c.1821TCC[12] (p.Pro620dup) rs3075570
NM_005219.5(DIAPH1):c.1821TCC[13] (p.Pro619_Pro620dup) rs3075570
NM_005219.5(DIAPH1):c.1821TCC[14] (p.Pro618_Pro620dup) rs3075570
NM_005219.5(DIAPH1):c.1821TCC[16] (p.Pro616_Pro620dup) rs3075570
NM_005219.5(DIAPH1):c.1821TCC[6] (p.Pro616_Pro620del) rs3075570
NM_005219.5(DIAPH1):c.1821TCC[7] (p.Pro617_Pro620del) rs3075570
NM_005219.5(DIAPH1):c.1821TCC[8] (p.Pro618_Pro620del) rs3075570
NM_005219.5(DIAPH1):c.1821TCC[9] (p.Pro619_Pro620del) rs3075570
NM_005219.5(DIAPH1):c.1826C>T (p.Pro609Leu)
NM_005219.5(DIAPH1):c.1852_1860dup (p.Pro618_Pro620dup) rs1562320985
NM_005219.5(DIAPH1):c.1854A>T (p.Pro618=) rs374236039
NM_005219.5(DIAPH1):c.1854_1859dup (p.Pro619_Pro620dup) rs773918503
NM_005219.5(DIAPH1):c.1856C>T (p.Pro619Leu) rs2154596301
NM_005219.5(DIAPH1):c.1875_1876delinsAC (p.Cys626Arg)
NM_005219.5(DIAPH1):c.1891C>T (p.Pro631Ser)
NM_005219.5(DIAPH1):c.1915A>G (p.Ile639Val) rs781398463
NM_005219.5(DIAPH1):c.1927C>G (p.Pro643Ala)
NM_005219.5(DIAPH1):c.1943A>T (p.Asp648Val)
NM_005219.5(DIAPH1):c.1963C>G (p.Pro655Ala) rs201827139
NM_005219.5(DIAPH1):c.1971_1972delinsT (p.Leu657fs) rs1064794044
NM_005219.5(DIAPH1):c.2000CTT[1] (p.Ser668del) rs1323222030
NM_005219.5(DIAPH1):c.2027C>G (p.Pro676Arg)
NM_005219.5(DIAPH1):c.2030C>A (p.Pro677Gln) rs761912885
NM_005219.5(DIAPH1):c.2053G>A (p.Ala685Thr)
NM_005219.5(DIAPH1):c.2054C>T (p.Ala685Val)
NM_005219.5(DIAPH1):c.2099T>A (p.Ile700Asn) rs199830182
NM_005219.5(DIAPH1):c.2108dup (p.Pro704fs) rs771360300
NM_005219.5(DIAPH1):c.2140C>A (p.Pro714Thr) rs2099895540
NM_005219.5(DIAPH1):c.2186C>G (p.Pro729Arg)
NM_005219.5(DIAPH1):c.2294T>A (p.Phe765Tyr)
NM_005219.5(DIAPH1):c.2303C>T (p.Thr768Ile)
NM_005219.5(DIAPH1):c.2358+36dup rs575375242
NM_005219.5(DIAPH1):c.2358+57del rs575375242
NM_005219.5(DIAPH1):c.2358+58G>T rs75962497
NM_005219.5(DIAPH1):c.2407del (p.Glu803fs)
NM_005219.5(DIAPH1):c.2461G>T (p.Ala821Ser)
NM_005219.5(DIAPH1):c.2483-87G>A rs192690040
NM_005219.5(DIAPH1):c.2492A>G (p.Asp831Gly)
NM_005219.5(DIAPH1):c.2581+106A>G rs74567974
NM_005219.5(DIAPH1):c.2645A>T (p.Asn882Ile) rs750058263
NM_005219.5(DIAPH1):c.2685T>G (p.Ile895Met) rs2154595015
NM_005219.5(DIAPH1):c.2702C>T (p.Pro901Leu)
NM_005219.5(DIAPH1):c.2779A>G (p.Met927Val) rs1277130012
NM_005219.5(DIAPH1):c.2794C>T (p.Arg932Ter) rs1057524293
NM_005219.5(DIAPH1):c.2901dup (p.Arg968fs) rs2099887774
NM_005219.5(DIAPH1):c.2905_2906dup (p.Ser970fs) rs1554201397
NM_005219.5(DIAPH1):c.2939C>T (p.Thr980Ile)
NM_005219.5(DIAPH1):c.2954A>G (p.Asn985Ser)
NM_005219.5(DIAPH1):c.300+280del rs150742201
NM_005219.5(DIAPH1):c.301-114_301-110del rs138815890
NM_005219.5(DIAPH1):c.301-230dup rs3217029
NM_005219.5(DIAPH1):c.3054GTT[1] (p.Leu1020del) rs1174667131
NM_005219.5(DIAPH1):c.3078G>C (p.Leu1026Phe)
NM_005219.5(DIAPH1):c.3145C>T (p.Arg1049Ter) rs863225243
NM_005219.5(DIAPH1):c.3149-25_3149-12dup rs79558427
NM_005219.5(DIAPH1):c.3149-25_3149-14dup rs79558427
NM_005219.5(DIAPH1):c.3149-25_3149-22dup rs79558427
NM_005219.5(DIAPH1):c.3149-25_3149-23dup rs79558427
NM_005219.5(DIAPH1):c.3149-25_3149-24dup rs79558427
NM_005219.5(DIAPH1):c.3149-25dup rs79558427
NM_005219.5(DIAPH1):c.3149-3del rs79558427
NM_005219.5(DIAPH1):c.3152C>T (p.Ser1051Phe) rs868531732
NM_005219.5(DIAPH1):c.3205G>A (p.Val1069Met)
NM_005219.5(DIAPH1):c.3250G>A (p.Asp1084Asn)
NM_005219.5(DIAPH1):c.3268dup (p.Met1090fs) rs1235751512
NM_005219.5(DIAPH1):c.3273+6C>G
NM_005219.5(DIAPH1):c.3274-121T>C rs148116628
NM_005219.5(DIAPH1):c.3274-244_3274-243insAAAAA rs113235750
NM_005219.5(DIAPH1):c.3378C>T (p.Pro1126=)
NM_005219.5(DIAPH1):c.3410A>T (p.Asp1137Val) rs2154594955
NM_005219.5(DIAPH1):c.3424C>T (p.Arg1142Trp) rs1353583066
NM_005219.5(DIAPH1):c.3432G>A (p.Met1144Ile) rs1562282214
NM_005219.5(DIAPH1):c.3447C>G (p.Val1149=)
NM_005219.5(DIAPH1):c.3464G>A (p.Arg1155Gln)
NM_005219.5(DIAPH1):c.3491G>A (p.Arg1164Gln)
NM_005219.5(DIAPH1):c.352A>T (p.Ile118Phe) rs769174848
NM_005219.5(DIAPH1):c.3590G>A (p.Gly1197Asp) rs1354335913
NM_005219.5(DIAPH1):c.3613G>A (p.Ala1205Thr)
NM_005219.5(DIAPH1):c.3614C>T (p.Ala1205Val) rs1064795207
NM_005219.5(DIAPH1):c.3623C>T (p.Ser1208Leu)
NM_005219.5(DIAPH1):c.3637C>T (p.Arg1213Ter) rs876657776
NM_005219.5(DIAPH1):c.3661+163G>T rs185759881
NM_005219.5(DIAPH1):c.369G>C (p.Glu123Asp)
NM_005219.5(DIAPH1):c.3812C>T (p.Ala1271Val) rs2154594795
NM_005219.5(DIAPH1):c.402+12del rs555848272
NM_005219.5(DIAPH1):c.402+58dup rs372035027
NM_005219.5(DIAPH1):c.439A>G (p.Met147Val)
NM_005219.5(DIAPH1):c.503T>C (p.Leu168Pro) rs2154596602
NM_005219.5(DIAPH1):c.538G>A (p.Val180Met) rs370495662
NM_005219.5(DIAPH1):c.59_60delinsAA (p.Gly20Glu) rs2154597565
NM_005219.5(DIAPH1):c.621-12T>G
NM_005219.5(DIAPH1):c.634C>T (p.Arg212Trp) rs769781925
NM_005219.5(DIAPH1):c.644A>G (p.His215Arg) rs1064795909
NM_005219.5(DIAPH1):c.655C>T (p.Arg219Cys)
NM_005219.5(DIAPH1):c.658T>C (p.Cys220Arg) rs2154596561
NM_005219.5(DIAPH1):c.745G>C (p.Asp249His)
NM_005219.5(DIAPH1):c.762C>A (p.Asn254Lys) rs2154596504
NM_005219.5(DIAPH1):c.809C>T (p.Pro270Leu)
NM_005219.5(DIAPH1):c.824+283dup rs3214265
NM_005219.5(DIAPH1):c.87G>A (p.Ala29=) rs762960433
NM_005219.5(DIAPH1):c.92G>C (p.Gly31Ala)
NM_005219.5(DIAPH1):c.933+2C>T

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