ClinVar Miner

List of variants reported by Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics

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ClinVar version:
Total variants: 290
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HGVS dbSNP
Multiple alleles
NC_000016.10:g.47614206_47644831del
NC_000016.10:g.88835270_88835272TGT[1]
NG_011977.1:g.1_264622del
NG_012059.2:g.1_302925del
NM_000019.4(ACAT1):c.1199A>G (p.His400Arg) rs761086326
NM_000021.4(PSEN1):c.514_516TTG[1] (p.Leu174del)
NM_000021.4(PSEN1):c.551A>G (p.Glu184Gly) rs1566641934
NM_000031.6(ALAD):c.520C>T (p.Arg174Cys) rs758622234
NM_000033.4(ABCD1):c.651G>C (p.Lys217Asn) rs864309520
NM_000044.6(AR):c.1174C>T (p.Pro392Ser) rs201934623
NM_000049.3(ASPA):c.454T>C (p.Cys152Arg) rs104894548
NM_000052.7(ATP7A):c.1933C>T (p.Arg645Ter) rs72554640
NM_000053.4(ATP7B):c.3305T>C (p.Ile1102Thr) rs560952220
NM_000059.3(BRCA2):c.5683G>A (p.Glu1895Lys) rs146351301
NM_000069.3(CACNA1S):c.1583G>A (p.Arg528His) rs80338777
NM_000070.3(CAPN3):c.2051-1G>T rs886042108
NM_000070.3(CAPN3):c.2134_*219del (p.Leu712_Ter822del)
NM_000070.3(CAPN3):c.2332G>A (p.Asp778Asn) rs115311625
NM_000070.3(CAPN3):c.2338G>C (p.Asp780His) rs778768583
NM_000088.3(COL1A1):c.2172del (p.Gly725fs) rs1567757138
NM_000094.3(COL7A1):c.1319del (p.Glu440fs) rs1559435706
NM_000116.5(TAZ):c.836del (p.Thr279fs) rs1557194525
NM_000138.5(FBN1):c.6113G>C (p.Cys2038Ser)
NM_000141.5(FGFR2):c.833G>T (p.Cys278Phe) rs776587763
NM_000151.4(G6PC):c.150_151del (p.Trp50fs) rs1057516674
NM_000151.4(G6PC):c.388_400del (p.Met130fs) rs1567705064
NM_000153.4(GALC):c.194G>A (p.Gly65Glu) rs1555384318
NM_000157.3(GBA):c.1448T>C rs421016
NM_000157.3(GBA):c.1603C>T rs747506979
NM_000157.3(GBA):c.[1197G>T];[1603C>T]
NM_000157.3(GBA):c.[1448T>C];[167T>G]
NM_000157.3(GBA):c.[1448T>C];[407C>T]
NM_000157.4(GBA):c.1177C>G (p.Leu393Val) rs878853315
NM_000157.4(GBA):c.1397T>G (p.Ile466Ser) rs878853320
NM_000157.4(GBA):c.1448T>G (p.Leu483Arg) rs421016
NM_000157.4(GBA):c.1459G>A (p.Ala487Thr) rs878853317
NM_000157.4(GBA):c.160G>T (p.Val54Leu) rs121908302
NM_000157.4(GBA):c.415G>C (p.Ala139Pro) rs878853314
NM_000157.4(GBA):c.835C>G (p.Leu279Val) rs1057519020
NM_000157.4(GBA):c.866G>C (p.Gly289Ala) rs878853321
NM_000159.4(GCDH):c.1207C>T (p.His403Tyr)
NM_000159.4(GCDH):c.528C>G (p.Cys176Trp) rs756345321
NM_000159.4(GCDH):c.881G>C (p.Arg294Pro) rs775606471
NM_000161.3(GCH1):c.632T>C (p.Met211Thr) rs1566658823
NM_000206.2(IL2RG):c.47T>C (p.Leu16Pro) rs879253742
NM_000206.2(IL2RG):c.982C>T (p.Arg328Ter) rs1064793347
NM_000220.5(KCNJ1):c.634C>T (p.Arg212Ter) rs201707868
NM_000235.4(LIPA):c.894G>C (p.Gln298His) rs116928232
NM_000249.3(MLH1):c.306G>T (p.Glu102Asp) rs63751665
NM_000249.4(MLH1):c.200G>T (p.Gly67Val)
NM_000249.4(MLH1):c.2038T>G rs63750809
NM_000249.4(MLH1):c.884+6G>A
NM_000267.3(NF1):c.6755A>G (p.Lys2252Arg) rs1060500344
NM_000268.4(NF2):c.863C>G (p.Ser288Ter)
NM_000284.4(PDHA1):c.291+1_418+1dup
NM_000302.3(PLOD1):c.[136C>T];[2075C>T]
NM_000306.4(POU1F1):c.638_642del (p.Arg213fs) rs772390221
NM_000310.3(PPT1):c.133T>C (p.Cys45Arg) rs878853323
NM_000310.3(PPT1):c.532delG (p.Glu178Asnfs) rs878853325
NM_000310.3(PPT1):c.707T>A (p.Val236Glu) rs878853324
NM_000310.3(PPT1):c.713C>T (p.Pro238Leu) rs878853322
NM_000312.4(PROC):c.113G>A (p.Arg38Gln) rs773107370
NM_000336.3(SCNN1B):c.1074C>A (p.Tyr358Ter) rs1182475940
NM_000350.3(ABCA4):c.4838del (p.Asp1613fs) rs61752438
NM_000356.4(TCOF1):c.1474G>A (p.Glu492Lys) rs764314276
NM_000359.3(TGM1):c.910A>T (p.Ile304Phe) rs753798494
NM_000363.5(TNNI3):c.143A>C (p.Gln48Pro) rs200720341
NM_000372.5(TYR):c.1037G>A (p.Gly346Glu) rs773970123
NM_000372.5(TYR):c.1110G>A (p.Met370Ile) rs1207709557
NM_000372.5(TYR):c.1147G>A (p.Asp383Asn) rs121908011
NM_000372.5(TYR):c.1217C>T (p.Pro406Leu) rs104894313
NM_000372.5(TYR):c.121G>A (p.Gly41Arg)
NM_000372.5(TYR):c.832C>T (p.Arg278Ter) rs62645904
NM_000377.3(WAS):c.1266_1267insG rs1557007312
NM_000380.3(XPA):c.648_649del (p.Lys217fs) rs1057519018
NM_000391.4(TPP1):c.1080C>A (p.Asp360Glu) rs1564854760
NM_000391.4(TPP1):c.1376A>C (p.Tyr459Ser) rs864309505
NM_000391.4(TPP1):c.1449dup (p.Ile484fs) rs1057516264
NM_000391.4(TPP1):c.184del (p.Ser62fs) rs1554902217
NM_000391.4(TPP1):c.381-10dup rs146315473
NM_000391.4(TPP1):c.456G>C (p.Arg152Ser) rs869025274
NM_000391.4(TPP1):c.457_490del (p.Ser153fs) rs878855331
NM_000391.4(TPP1):c.471C>A (p.Tyr157Ter) rs553522118
NM_000391.4(TPP1):c.689del (p.Phe230fs) rs1554901898
NM_000404.3(GLB1):c.[276G>A];[75+5G>C]
NM_000404.4(GLB1):c.253C>A (p.Pro85Thr)
NM_000404.4(GLB1):c.276G>A (p.Trp92Ter) rs748830051
NM_000404.4(GLB1):c.385G>C (p.Glu129Gln)
NM_000404.4(GLB1):c.407C>T (p.Pro136Leu)
NM_000404.4(GLB1):c.495_497del (p.Leu166del)
NM_000404.4(GLB1):c.545C>G (p.Thr182Arg)
NM_000405.5(GM2A):c.244-2A>T rs1057519022
NM_000405.5(GM2A):c.472G>T (p.Glu158Ter) rs1057519021
NM_000426.3(LAMA2):c.7881T>G (p.His2627Gln) rs202247792
NM_000430.4(PAFAH1B1):c.118-11_118-7del rs1555526298
NM_000492.3(CFTR):c.1518C>G (p.Ile506Met) rs1800092
NM_000492.3(CFTR):c.1521_1523delCTT (p.Phe508delPhe) rs113993960
NM_000492.4(CFTR):c.3468+6T>C rs547442588
NM_000500.9(CYP21A2):c.92C>T (p.Pro31Leu) rs9378251
NM_000512.5(GALNS):c.1049T>C (p.Leu350Pro)
NM_000512.5(GALNS):c.116A>G (p.Asp39Gly)
NM_000512.5(GALNS):c.1241dup (p.Ile416fs)
NM_000512.5(GALNS):c.230C>G (p.Pro77Arg)
NM_000512.5(GALNS):c.235T>C (p.Cys79Arg) rs1478665723
NM_000512.5(GALNS):c.374C>T (p.Pro125Leu) rs746949976
NM_000512.5(GALNS):c.452C>T (p.Pro151Leu) rs559063128
NM_000512.5(GALNS):c.764G>C (p.Gly255Ala)
NM_000520.6(HEXA):c.1073+1G>A rs76173977
NM_000520.6(HEXA):c.1121A>C (p.Gln374Pro) rs1057519464
NM_000520.6(HEXA):c.1178G>C (p.Arg393Pro) rs370266293
NM_000520.6(HEXA):c.1259G>A (p.Trp420Ter) rs1057519465
NM_000520.6(HEXA):c.1274_1277dup (p.Tyr427fs) rs387906309
NM_000520.6(HEXA):c.1349del (p.Ala450fs) rs1057519466
NM_000520.6(HEXA):c.1360G>C (p.Gly454Arg) rs121907978
NM_000520.6(HEXA):c.1421G>A (p.Trp474Ter) rs762374961
NM_000520.6(HEXA):c.1432G>A (p.Gly478Arg) rs1057519467
NM_000520.6(HEXA):c.1454G>A (p.Trp485Ter) rs1057519468
NM_000520.6(HEXA):c.1495C>T (p.Arg499Cys) rs121907966
NM_000520.6(HEXA):c.1528C>T (p.Arg510Ter) rs786204585
NM_000520.6(HEXA):c.2T>C (p.Met1Thr) rs786204721
NM_000520.6(HEXA):c.316C>T (p.Gln106Ter) rs773446161
NM_000520.6(HEXA):c.340G>A (p.Glu114Lys) rs748190164
NM_000520.6(HEXA):c.426del (p.Phe142fs) rs1057519458
NM_000520.6(HEXA):c.459+4A>C rs1057519459
NM_000520.6(HEXA):c.459+5G>A rs762060470
NM_000520.6(HEXA):c.460-1G>A rs764343937
NM_000520.6(HEXA):c.508C>T (p.Arg170Trp) rs121907972
NM_000520.6(HEXA):c.509G>A (p.Arg170Gln) rs121907957
NM_000520.6(HEXA):c.524A>C (p.Asp175Ala) rs1057519460
NM_000520.6(HEXA):c.532C>T (p.Arg178Cys) rs121907953
NM_000520.6(HEXA):c.616G>C (p.Val206Leu) rs543071358
NM_000520.6(HEXA):c.637T>C (p.Tyr213His) rs1057519461
NM_000520.6(HEXA):c.672+30T>G rs117160567
NM_000520.6(HEXA):c.709C>T (p.Gln237Ter) rs150675340
NM_000520.6(HEXA):c.788C>T (p.Thr263Ile) rs1057519462
NM_000520.6(HEXA):c.805+1G>C rs121907980
NM_000520.6(HEXA):c.805G>C (p.Gly269Arg) rs121907954
NM_000520.6(HEXA):c.898_905del (p.Phe300fs) rs1057519463
NM_000520.6(HEXA):c.964G>A (p.Asp322Asn) rs772180415
NM_000520.6(HEXA):c.964G>T (p.Asp322Tyr) rs772180415
NM_000521.4(HEXB):c.298C>T (p.Arg100Ter) rs1007338250
NM_000531.6(OTC):c.517C>G (p.Leu173Val) rs1131692152
NM_000533.5(PLP1):c.365A>G (p.Lys122Arg) rs1135401759
NM_000719.7(CACNA1C):c.3679G>A (p.Val1227Ile) rs373124557
NM_000969.5(RPL5):c.169_172del (p.Asn57fs) rs1558284033
NM_001010867.3(IBA57):c.[167G>A];[826C>T]
NM_001022.4(RPS19):c.367_368dup (p.Leu123_Thr124insTer) rs1568796003
NM_001025295.3(IFITM5):c.-14C>T rs587776916
NM_001029883.3(PCARE):c.1191G>A (p.Trp397Ter) rs777103184
NM_001040142.2(SCN2A):c.1154del (p.Phe385fs) rs879253767
NM_001040616.3(LINS1):c.937G>A (p.Glu313Lys) rs1057519019
NM_001042545.2(LTBP4):c.1828C>T (p.Gln610Ter) rs1568406407
NM_001048174.2(MUTYH):c.1354G>T (p.Glu452Ter) rs121908381
NM_001072.4(UGT1A6):c.862-6394dup rs748219743
NM_001079823.2(LAMA2):c.4959+1del
NM_001080463.1(DYNC2H1):c.[5053G>A];[7784A>G]
NM_001083116.3(PRF1):c.386G>C (p.Trp129Ser) rs768849283
NM_001098511.2(KIF2A):c.382T>C (p.Ser128Pro) rs138408434
NM_001100.3(ACTA1):c.521C>T (p.Pro174Leu) rs1057519311
NM_001127178.3(PIGG):c.1830T>A (p.Cys610Ter) rs1560343436
NM_001127221.1(CACNA1A):c.4046G>A (p.Arg1349Gln) rs1057520918
NM_001127487.2(FLNC):c.6988G>A (p.Asp2330Asn) rs1554401490
NM_001128849.2(SMARCA4):c.5000A>G (p.Gln1667Arg) rs1568566518
NM_001130987.2(DYSF):c.1493+2dup rs753885022
NM_001130987.2(DYSF):c.1721T>C (p.Leu574Pro) rs200916654
NM_001130987.2(DYSF):c.4701C>G (p.Tyr1567Ter) rs770905160
NM_001130987.2(DYSF):c.5642G>A (p.Gly1881Asp) rs1131692158
NM_001130987.2(DYSF):c.730del (p.Leu244fs) rs1553521119
NM_001165963.4(SCN1A):c.505T>C (p.Ser169Pro) rs796052957
NM_001165963.4(SCN1A):c.5351T>A (p.Val1784Asp) rs1057518671
NM_001167617.2(MLH1):c.-134del rs63750028
NM_001195248.2(APTX):c.776del (p.Val259fs) rs1563945076
NM_001235.4(SERPINH1):c.1214G>A (p.Arg405His) rs781125078
NM_001256047.1(C19orf12):c.46T>C (p.Ser16Pro) rs1568332606
NM_001267550.2(TTN):c.104576G>A (p.Arg34859Gln) rs68080670
NM_001267550.2(TTN):c.48953T>C (p.Ile16318Thr) rs72677243
NM_001278064.2(GRM1):c.26dup (p.Ala11fs) rs758809498
NM_001281463.1(SMC1A):c.1969G>T (p.Glu657Ter) rs1569356968
NM_001287.6(CLCN7):c.1165G>A (p.Gly389Arg) rs1555465003
NM_001287.6(CLCN7):c.641A>G (p.Asn214Ser) rs367567630
NM_001303256.3(MORC2):c.1220G>T (p.Cys407Phe) rs1555938741
NM_001308093.3(GATA4):c.623T>A (p.Met208Lys)
NM_001365276.2(TNXB):c.3002C>T (p.Pro1001Leu) rs768607753
NM_001365536.1(SCN9A):c.1844A>G (p.Asn615Ser) rs780995899
NM_001365999.1(SZT2):c.2086C>T (p.Arg696Trp) rs574115531
NM_001374258.1(BRAF):c.1526G>A (p.Gly509Glu) rs121913355
NM_001377.3(DYNC2H1):c.10100G>T (p.Arg3367Leu) rs759549373
NM_001377.3(DYNC2H1):c.10573C>T (p.Arg3525Ter) rs181011657
NM_001399.5(EDA):c.686dup (p.Gly230fs)
NM_001440.4(EXTL3):c.953C>T (p.Pro318Leu) rs749621890
NM_001458.4(FLNC):c.6200G>A (p.Arg2067His) rs776520014
NM_001540.5(HSPB1):c.418C>G (p.Arg140Gly) rs121909112
NM_001848.3(COL6A1):c.850G>A rs121912938
NM_001849.4(COL6A2):c.2795C>T rs117725825
NM_001999.4(FBN2):c.7145G>A (p.Arg2382Gln) rs757161476
NM_002335.4(LRP5):c.4488G>A (p.Pro1496=) rs1565118560
NM_002351.4(SH2D1A):c.138-3C>G rs1556620697
NM_002641.3(PIGA):c.247C>G (p.Leu83Val) rs1335237092
NM_003172.4(SURF1):c.833+1G>A rs782609482
NM_003494.4(DYSF):c.[1670T>C];[4701C>G]
NM_003560.4(PLA2G6):c.2222G>A (p.Arg741Gln) rs121908686
NM_003718.5(CDK13):c.4097G>A (p.Arg1366His) rs3801237
NM_003737.4(DCHS1):c.2382G>C (p.Gln794His) rs369091875
NM_003849.4(SUCLG1):c.443C>T (p.Pro148Leu) rs1331661730
NM_004006.2(DMD):c.5899C>T (p.Arg1967Ter) rs128626249
NM_004006.2(DMD):c.8459G>A (p.Trp2820Ter) rs886039785
NM_004006.2(DMD):c.94_264dup
NM_004006.2:c.94_3786dup
NM_004006.3(DMD):c.6615-2A>G
NM_004056.6(CA8):c.100+1G>A rs1563390893
NM_004360.5(CDH1):c.781G>A (p.Glu261Lys) rs121964873
NM_004369.3(COL6A3):c.3844G>A (p.Val1282Met) rs535661345
NM_004562.3(PRKN):c.1301T>C (p.Met434Thr)
NM_004628.4(XPC):c.2034-1G>A rs869025275
NM_004646.3(NPHS1):c.2206G>A (p.Val736Met) rs1131692245
NM_004980.4(KCND3):c.257G>A (p.Arg86Gln)
NM_005026.5(PIK3CD):c.3061G>A (p.Glu1021Lys) rs397518423
NM_005198.4(CHKB):c.940C>T (p.Arg314Cys) rs200919604
NM_005476.7(GNE):c.2086G>A (p.Val696Met) rs121908627
NM_005476.7(GNE):c.4G>T (p.Glu2Ter) rs886044514
NM_005476.7(GNE):c.[2086G>A];[385C>T]
NM_006013.5(RPL10):c.565C>T (p.Arg189Trp)
NM_006432.4(NPC2):c.141C>A (p.Cys47Ter) rs80358263
NM_006432.4(NPC2):c.82+2T>C rs879253740
NM_006767.4(LZTR1):c.1904C>T (p.Pro635Leu) rs148677674
NM_006772.3(SYNGAP1):c.403C>T (p.Arg135Ter) rs1131692154
NM_006796.2(AFG3L2):c.1951A>G (p.Arg651Gly) rs764254189
NM_006920.6(SCN1A):c.602+1G>A rs794726827
NM_007294.4(BRCA1):c.3916_3917del (p.Leu1306fs) rs80357678
NM_012179.3(FBXO7):c.[274G>C];[520T>A]
NM_012434.5(SLC17A5):c.116G>A (p.Arg39His) rs769235753
NM_013275.6(ANKRD11):c.3706C>T (p.Gln1236Ter) rs1555528356
NM_014297.5(ETHE1):c.417T>G (p.Cys139Trp) rs1472850646
NM_014297.5(ETHE1):c.505+1G>C rs935855792
NM_014694.4(ADAMTSL2):c.493G>A (p.Ala165Thr) rs764516811
NM_014946.3(SPAST):c.631G>A (p.Val211Ile) rs143003434
NM_015166.3(MLC1):c.177+5G>A rs1555968723
NM_015665.6(AAAS):c.43C>A (p.Gln15Lys) rs121918549
NM_018105.3(THAP1):c.427A>G (p.Met143Val) rs374512193
NM_018136.5(ASPM):c.7782_7783del (p.Lys2595fs) rs199422173
NM_019098.4(CNGB3):c.1781+1G>T
NM_020223.4(FAM20C):c.1228T>A (p.Ser410Thr) rs148276213
NM_020223.4(FAM20C):c.1680C>A (p.Cys560Ter) rs371584776
NM_020461.3(TUBGCP6):c.[3139C>T];[5140G>A]
NM_020919.4(ALS2):c.3415C>T (p.Arg1139Ter) rs767350733
NM_020928.2(ZSWIM6):c.407G>T (p.Gly136Val)
NM_020975.6(RET):c.2410G>A (p.Val804Met) rs79658334
NM_020975.6(RET):c.73+9277T>C rs2435357
NM_022089.4(ATP13A2):c.859G>A (p.Asp287Asn)
NM_022172.2(PC):c.[2095G>A];[2095G>T]
NM_022726.4(ELOVL4):c.289-2A>G rs1554162524
NM_024301.5(FKRP):c.679G>C (p.Ala227Pro) rs775681117
NM_024426.6(WT1):c.911C>T (p.Ser304Phe) rs267602852
NM_024884.3(L2HGDH):c.256+1G>A rs150299874
NM_024989.4(PGAP1):c.2286+5G>A rs937847069
NM_025114.4(CEP290):c.5745dup (p.Lys1916Ter) rs751361090
NM_025137.4(SPG11):c.2146C>T (p.Gln716Ter) rs312262737
NM_025137.4(SPG11):c.442+5G>T
NM_025137.4(SPG11):c.733_734del (p.Met245fs) rs312262720
NM_032043.3(BRIP1):c.1897A>C rs765314472
NM_032667.6(BSCL2):c.269C>T (p.Ser90Leu) rs137852973
NM_032861.4(SERAC1):c.1403+1G>C rs1131690799
NM_033305.3(VPS13A):c.555+1G>A
NM_033380.3(COL4A5):c.2918-1G>A rs104886372
NM_033380.3(COL4A5):c.3978del (p.Gly1327fs) rs1131692246
NM_052845.4(MMAB):c.197-1G>T rs763935916
NM_054012.4(ASS1):c.1168G>A (p.Gly390Arg) rs121908641
NM_133433.3(NIPBL):c.3856-?_4239+?del
NM_152416.3(NDUFAF6):c.[328G>T];[611C>T]
NM_152419.3(HGSNAT):c.836A>C (p.Asp279Ala) rs1085307112
NM_152641.4(ARID2):c.2521C>T (p.Gln841Ter) rs1555154946
NM_152778.3(MFSD8):c.268G>C (p.Ala90Pro) rs1553950970
NM_152778.3(MFSD8):c.935T>C (p.Ile312Thr) rs556875684
NM_153033.4(KCTD7):c.302G>A (p.Gly101Asp) rs1554397831
NM_153638.3(PANK2):c.*40G>C rs1131692166
NM_170707.4(LMNA):c.91_93del (p.Glu31del) rs864309525
NM_172107.4(KCNQ2):c.1080G>A (p.Trp360Ter)
NM_172250.3(MMAA):c.433C>T (p.Arg145Ter) rs104893851
NM_173076.3(ABCA12):c.1657+1G>T rs758568142
NM_173076.3(ABCA12):c.5939+4A>G rs1131692156
NM_173076.3(ABCA12):c.859C>T (p.Arg287Ter) rs11891778
NM_173660.5(DOK7):c.1061C>T (p.Ser354Phe) rs756015202
NM_173660.5(DOK7):c.199C>T (p.Pro67Ser) rs1553846331
NM_178012.5(TUBB2B):c.33G>C (p.Gln11His) rs1135401758
NM_178012.5(TUBB2B):c.767A>G (p.Asn256Ser) rs397514568
NM_183235.3(RAB27A):c.550C>T (p.Arg184Ter) rs200956636
NM_198576.4(AGRN):c.1198C>T (p.Arg400Trp) rs149636063
NM_201525.4(ADGRG1):c.739_745del (p.Gln247fs) rs587776625
NM_201525.4(ADGRG1):c.898C>T (p.Gln300Ter) rs1567782714

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