ClinVar Miner

List of variants reported as likely pathogenic by Institute of Human Genetics,Cologne University

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ClinVar version:
Total variants: 106
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HGVS dbSNP
NM_000052.7(ATP7A):c.2972C>A (p.Ala991Asp) rs1557236729
NM_000088.4(COL1A1):c.572G>T (p.Gly191Val)
NM_000089.3(COL1A2):c.2673G>A (p.Val891=) rs1114167364
NM_000089.4(COL1A2):c.1424G>T (p.Gly475Val)
NM_000089.4(COL1A2):c.2072G>A (p.Gly691Asp)
NM_000091.4(COL4A3):c.205G>T (p.Glu69Ter) rs1574658390
NM_000091.4(COL4A3):c.2981G>A (p.Gly994Asp) rs1574803132
NM_000091.5(COL4A3):c.4219G>T (p.Glu1407Ter)
NM_000092.4(COL4A4):c.903dup (p.Gly302fs) rs1559628183
NM_000092.5(COL4A4):c.3101C>A (p.Ser1034Ter) rs1576129421
NM_000092.5(COL4A4):c.595G>T (p.Gly199Ter) rs750345987
NM_000138.4(FBN1):c.5966G>T (p.Cys1989Phe) rs1597531796
NM_000138.4(FBN1):c.7735del (p.His2579fs) rs1566891454
NM_000138.5(FBN1):c.4489T>A (p.Cys1497Ser)
NM_000138.5(FBN1):c.6070dup (p.Cys2024fs) rs1597529829
NM_000138.5(FBN1):c.7286G>A (p.Cys2429Tyr)
NM_000275.3(OCA2):c.1657_1675del (p.Val553fs)
NM_000297.4(PKD2):c.1623_1626del (p.Asp541fs) rs1560617356
NM_000344.4(SMN1):c.379T>C (p.Tyr127His)
NM_000393.5(COL5A2):c.3490G>C (p.Gly1164Arg)
NM_000458.4(HNF1B):c.458A>G (p.His153Arg) rs1598848762
NM_000486.5(AQP2):c.563C>T (p.Ser188Phe) rs1131690792
NM_000503.6(EYA1):c.1460C>A (p.Ser487Ter) rs139717960
NM_000551.4(VHL):c.484del (p.Cys162fs)
NM_000782.5(CYP24A1):c.3G>T (p.Met1Ile) rs781367354
NM_001009944.3(PKD1):c.4165_4166del (p.Arg1389fs) rs1555456208
NM_001009944.3(PKD1):c.5627C>G (p.Ser1876Ter) rs1567196052
NM_001009944.3(PKD1):c.696T>G (p.Cys232Trp) rs1114167370
NM_001009944.3(PKD1):c.7268C>A (p.Ser2423Tyr) rs1555453207
NM_001009944.3(PKD1):c.8005del (p.Ala2669fs) rs1596536546
NM_001098484.3(SLC4A4):c.831del (p.Lys277fs) rs1553913019
NM_001111.5(ADAR):c.665_666insGGAGCCAAGGAGCCCCAAA (p.Asn222fs) rs1571110158
NM_001127207.2(SMARCAL1):c.2542G>T (p.Glu848Ter) rs119473033
NM_001127660.1(MFN2):c.154G>A (p.Glu52Lys) rs1553141017
NM_001127671.2(LIFR):c.2444C>G (p.Thr815Arg)
NM_001174147.2(LMX1B):c.924del (p.Tyr309fs) rs1588309277
NM_001265593.1(PLEKHG5):c.1645A>C (p.Met549Leu) rs1441260635
NM_001267550.2(TTN):c.98515_98568del (p.Pro32839_Val32856del)
NM_001273.5(CHD4):c.2189A>G (p.Gln730Arg)
NM_001303256.3(MORC2):c.956G>A (p.Arg319His) rs1163530787
NM_001330701.2(AGTPBP1):c.2396G>T (p.Arg799Leu)
NM_001363118.2(SLC52A2):c.-110-1G>A rs1554853682
NM_001370259.2(MEN1):c.912G>T (p.Lys304Asn)
NM_001378120.1(MBD5):c.1119del (p.Val374fs)
NM_001540.5(HSPB1):c.415A>G (p.Thr139Ala) rs1554614648
NM_001605.2(AARS1):c.2873T>C (p.Phe958Ser) rs1555539157
NM_001605.2(AARS1):c.328T>C (p.Phe110Leu) rs1555542415
NM_001849.3(COL6A2):c.1055del rs1555873507
NM_002180.2(IGHMBP2):c.1523C>T (p.Ser508Leu) rs754465226
NM_002335.4(LRP5):c.3758G>A (p.Cys1253Tyr) rs768615287
NM_002437.5(MPV17):c.263_265delinsTGT (p.Lys88_Met89delinsMetLeu)
NM_002693.2(POLG):c.678G>C (p.Gln226His) rs147282197
NM_003070.5(SMARCA2):c.2552A>G (p.Asp851Gly) rs886041045
NM_003361.3(UMOD):c.1463G>A (p.Gly488Asp) rs1555486021
NM_003361.4(UMOD):c.742T>C (p.Cys248Arg)
NM_003681.5(PDXK):c.225T>A (p.Asn75Lys) rs1601814238
NM_003995.3(NPR2):c.298G>A (p.Gly100Ser) rs753644648
NM_003998.4(NFKB1):c.2671del (p.Ala891fs)
NM_004092.4(ECHS1):c.476A>G (p.Gln159Arg) rs375032130
NM_004193.3(GBF1):c.2945G>A (p.Cys982Tyr)
NM_004193.3(GBF1):c.3410C>T (p.Ala1137Val)
NM_004193.3(GBF1):c.3525G>A (p.Trp1175Ter)
NM_004193.3(GBF1):c.4382G>A (p.Arg1461Gln)
NM_004247.4(EFTUD2):c.1742del (p.Lys581fs) rs1597795170
NM_004553.6(NDUFS6):c.309+5G>A
NM_004612.4(TGFBR1):c.735G>C (p.Glu245Asp) rs1588585506
NM_004826.4(ECEL1):c.1990-3C>G rs1229171141
NM_004826.4(ECEL1):c.1A>G (p.Met1Val) rs1356994386
NM_004937.3(CTNS):c.768dup (p.Val257fs) rs1567713938
NM_005245.4(FAT1):c.8446_8447dup (p.Phe2817fs) rs1579327590
NM_005902.4(SMAD3):c.789del (p.Ser264fs)
NM_006852.6(TLK2):c.1579G>A (p.Gly527Arg)
NM_012203.2(GRHPR):c.617_671del (p.Ala206fs) rs1564300888
NM_014140.3(SMARCAL1):c.2570G>A (p.Gly857Glu) rs1553535161
NM_014874.3(MFN2):c.404G>A (p.Arg135Gln) rs1443036026
NM_015346.4(ZFYVE26):c.2196_2198del (p.Val733del) rs1555399289
NM_015378.4(VPS13D):c.12530G>A (p.Gly4177Asp)
NM_016955.4(SEPSECS):c.715G>A (p.Ala239Thr) rs267607035
NM_017780.4(CHD7):c.3616del (p.Ile1206fs)
NM_017780.4(CHD7):c.709del (p.His237fs)
NM_019109.5(ALG1):c.1280T>G (p.Phe427Cys)
NM_020732.3(ARID1B):c.3401C>G (p.Ser1134Ter) rs1583469292
NM_020732.3(ARID1B):c.5482G>A (p.Glu1828Lys) rs1451259945
NM_022356.3(P3H1):c.232C>T (p.Gln78Ter) rs1330779100
NM_022893.4(BCL11A):c.1755C>A (p.Cys585Ter)
NM_024301.5(FKRP):c.1036T>C (p.Ser346Pro) rs753811189
NM_024408.4(NOTCH2):c.5431C>T (p.Gln1811Ter) rs1557804111
NM_024417.5(FDXR):c.463C>T (p.Arg155Trp)
NM_031263.4(HNRNPK):c.1282G>A (p.Glu428Lys)
NM_033380.3(COL4A5):c.2378G>C (p.Gly793Ala) rs1603293624
NM_033380.3(COL4A5):c.4389dup (p.Val1464fs) rs1569508360
NM_033380.3(COL4A5):c.4804G>A (p.Gly1602Ser) rs104886424
NM_138694.4(PKHD1):c.9829+1G>A rs1273202231
NM_139284.3(LGI4):c.200T>G (p.Leu67Arg) rs1555734932
NM_153240.4(NPHP3):c.[2108A>C];[3373C>T]
NM_176787.5(PIGN):c.1790del (p.Phe597fs) rs1599531710
NM_182931.3(KMT2E):c.1099_1103dup (p.Glu369fs)
NM_182931.3(KMT2E):c.183_186+2del
NM_182931.3(KMT2E):c.2051_2052dup (p.Glu685Ter) rs1562928193
NM_182931.3(KMT2E):c.264A>G (p.Glu88=)
NM_182931.3(KMT2E):c.2848-2A>C
NM_182931.3(KMT2E):c.4279C>T (p.Gln1427Ter)
NM_182931.3(KMT2E):c.4829dup (p.Leu1610fs)
NM_182931.3(KMT2E):c.5054dup (p.Pro1686fs)
NM_182931.3(KMT2E):c.65del (p.Gly22fs)
NM_182931.3(KMT2E):c.768+1G>A

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