ClinVar Miner

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

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Total variants: 45
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HGVS dbSNP
NM_000052.7(ATP7A):c.2972C>A (p.Ala991Asp) rs1557236729
NM_000089.3(COL1A2):c.2673G>A (p.Val891=) rs1114167364
NM_000091.4(COL4A3):c.205G>T (p.Glu69Ter)
NM_000091.4(COL4A3):c.2981G>A (p.Gly994Asp)
NM_000092.4(COL4A4):c.903dup (p.Gly302fs) rs1559628183
NM_000138.4(FBN1):c.6070dup (p.Cys2024fs)
NM_000138.4(FBN1):c.7735del (p.His2579fs) rs1566891454
NM_000297.4(PKD2):c.1623_1626del (p.Asp541fs) rs1560617356
NM_000458.4(HNF1B):c.458A>G (p.His153Arg)
NM_000486.5(AQP2):c.563C>T (p.Ser188Phe) rs1131690792
NM_000495.5(COL4A5):c.4371dup (p.Val1458fs) rs1569508360
NM_000495.5(COL4A5):c.4786G>A (p.Gly1596Ser)
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_001031681.2(CTNS):c.768dup (p.Val257fs) rs1567713938
NM_001253816.1(SLC52A2):c.-110-1G>A rs1554853682
NM_001303256.3(MORC2):c.956G>A (p.Arg319His) rs1163530787
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_003070.5(SMARCA2):c.2552A>G (p.Asp851Gly) rs886041045
NM_003361.3(UMOD):c.1463G>A (p.Gly488Asp) rs1555486021
NM_003759.3(SLC4A4):c.699del (p.Lys233fs) rs1553913019
NM_004826.4(ECEL1):c.1990-3C>G rs1229171141
NM_004826.4(ECEL1):c.1A>G (p.Met1Val) rs1356994386
NM_012203.2(GRHPR):c.617_671del (p.Ala206fs) rs1564300888
NM_014140.3(SMARCAL1):c.2542G>T (p.Glu848Ter) rs119473033
NM_014140.3(SMARCAL1):c.2570G>A (p.Gly857Glu) rs1553535161
NM_014874.3(MFN2):c.154G>A (p.Glu52Lys) rs1553141017
NM_014874.3(MFN2):c.404G>A (p.Arg135Gln) rs1443036026
NM_015346.4(ZFYVE26):c.2196_2198del (p.Val733del) rs1555399289
NM_020631.5(PLEKHG5):c.1438A>C (p.Met480Leu) rs1441260635
NM_020732.3(ARID1B):c.3401C>G (p.Ser1134Ter)
NM_020732.3(ARID1B):c.5482G>A (p.Glu1828Lys) rs1451259945
NM_022356.3(P3H1):c.232C>T (p.Gln78Ter)
NM_024301.5(FKRP):c.1036T>C (p.Ser346Pro) rs753811189
NM_024408.4(NOTCH2):c.5431C>T (p.Gln1811Ter) rs1557804111
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_182931.3(KMT2E):c.2049_2050TA[3] (p.Glu685Ter) rs1562928193

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