ClinVar Miner

List of variants in gene HSD17B4 reported as likely pathogenic

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Gene type:
ClinVar version:
Total variants: 161
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HGVS dbSNP gnomAD frequency
NM_000414.4(HSD17B4):c.1767G>T (p.Lys589Asn) rs142527052 0.00009
NM_000414.4(HSD17B4):c.58+190T>A rs1001866915 0.00006
NM_000414.4(HSD17B4):c.1216C>T (p.His406Tyr) rs371585154 0.00004
NM_000414.4(HSD17B4):c.743G>A (p.Arg248His) rs748057401 0.00003
NM_000414.4(HSD17B4):c.1528G>A (p.Asp510Asn) rs191468413 0.00002
NM_000414.4(HSD17B4):c.394C>T (p.Arg132Trp) rs773305477 0.00002
NM_000414.4(HSD17B4):c.587C>T (p.Ala196Val) rs550705310 0.00002
NC_000005.9:g.118829592G>T rs368744809 0.00001
NM_000414.4(HSD17B4):c.1210-11C>G rs779466683 0.00001
NM_000414.4(HSD17B4):c.1333+1G>C rs1369305726 0.00001
NM_000414.4(HSD17B4):c.1516C>T (p.Arg506Cys) rs766199971 0.00001
NM_000414.4(HSD17B4):c.1547T>C (p.Ile516Thr) rs587777443 0.00001
NM_000414.4(HSD17B4):c.1574-1G>A rs755412738 0.00001
NM_000414.4(HSD17B4):c.2116C>T (p.Gln706Ter) rs771510541 0.00001
NM_000414.4(HSD17B4):c.280+2T>C rs770772281 0.00001
NM_000414.4(HSD17B4):c.526A>G (p.Asn176Asp) rs775766910 0.00001
NM_000414.4(HSD17B4):c.742C>T (p.Arg248Cys) rs969485098 0.00001
NM_000414.4(HSD17B4):c.752G>A (p.Arg251Gln) rs773024366 0.00001
NC_000005.10:g.(?_119514971)_(119542004_?)del
NM_000414.3(HSD17B4):c.[64G>T];[819G>T]
NM_000414.4(HSD17B4):c.1001del (p.Pro334fs)
NM_000414.4(HSD17B4):c.1021_1022insGTTGATT (p.Glu341delinsGlyTer)
NM_000414.4(HSD17B4):c.1035del (p.Met346fs) rs2126780815
NM_000414.4(HSD17B4):c.1092_1095del (p.Ile364fs)
NM_000414.4(HSD17B4):c.1115C>T (p.Ser372Phe) rs1198548214
NM_000414.4(HSD17B4):c.1121del (p.Leu374fs) rs2126781231
NM_000414.4(HSD17B4):c.113-1G>T rs1224475289
NM_000414.4(HSD17B4):c.1132G>A (p.Gly378Arg) rs1006852881
NM_000414.4(HSD17B4):c.1135_1136insACTGTCTC (p.Val379fs)
NM_000414.4(HSD17B4):c.1168G>T (p.Gly390Ter)
NM_000414.4(HSD17B4):c.1210-1G>A rs1554065671
NM_000414.4(HSD17B4):c.1214T>C (p.Leu405Pro)
NM_000414.4(HSD17B4):c.1231_1232del (p.Leu411fs)
NM_000414.4(HSD17B4):c.1233dup (p.Glu412fs) rs2126790164
NM_000414.4(HSD17B4):c.1261+1G>T
NM_000414.4(HSD17B4):c.1262-1G>A rs2126806430
NM_000414.4(HSD17B4):c.1262-1G>C
NM_000414.4(HSD17B4):c.1262-2A>G rs1751692890
NM_000414.4(HSD17B4):c.1268T>G (p.Leu423Ter) rs1057516735
NM_000414.4(HSD17B4):c.1300_1303del (p.Asp434fs) rs1057517045
NM_000414.4(HSD17B4):c.1328_1329del (p.Met443fs)
NM_000414.4(HSD17B4):c.1333+1G>A
NM_000414.4(HSD17B4):c.1334-2A>T rs1554066421
NM_000414.4(HSD17B4):c.1369A>G (p.Asn457Asp) rs137853097
NM_000414.4(HSD17B4):c.1369A>T (p.Asn457Tyr) rs137853097
NM_000414.4(HSD17B4):c.1383_1384del (p.Phe462fs) rs2126814260
NM_000414.4(HSD17B4):c.1438-1G>A rs1554067009
NM_000414.4(HSD17B4):c.1438-1G>C
NM_000414.4(HSD17B4):c.1438-2A>C rs1057516273
NM_000414.4(HSD17B4):c.1440_1441del (p.Ala481fs) rs1057516859
NM_000414.4(HSD17B4):c.1449_1451delinsA (p.Ile484fs)
NM_000414.4(HSD17B4):c.1472_1473del (p.Ala491fs)
NM_000414.4(HSD17B4):c.1480dup (p.Thr494fs)
NM_000414.4(HSD17B4):c.1488del (p.Thr497fs)
NM_000414.4(HSD17B4):c.1496_1497del (p.Leu499fs)
NM_000414.4(HSD17B4):c.1503+1G>A
NM_000414.4(HSD17B4):c.1504-1G>A
NM_000414.4(HSD17B4):c.1504-2A>C rs1554068134
NM_000414.4(HSD17B4):c.1517G>A (p.Arg506His) rs1554068136
NM_000414.4(HSD17B4):c.1544A>G (p.His515Arg) rs1753477498
NM_000414.4(HSD17B4):c.1573+1G>A
NM_000414.4(HSD17B4):c.1573+1G>T
NM_000414.4(HSD17B4):c.1595A>G (p.His532Arg) rs1554068272
NM_000414.4(HSD17B4):c.1597G>T (p.Gly533Ter)
NM_000414.4(HSD17B4):c.1605T>A (p.Cys535Ter)
NM_000414.4(HSD17B4):c.1628G>C (p.Arg543Pro) rs201009485
NM_000414.4(HSD17B4):c.1630_1633dup (p.Leu545fs) rs1057517323
NM_000414.4(HSD17B4):c.1635dup (p.Gln546fs)
NM_000414.4(HSD17B4):c.1636C>T (p.Gln546Ter)
NM_000414.4(HSD17B4):c.1660_1661del (p.Ser554fs)
NM_000414.4(HSD17B4):c.167delinsCT (p.Asp56fs)
NM_000414.4(HSD17B4):c.1681-1G>C
NM_000414.4(HSD17B4):c.1717_1718del (p.Leu573fs) rs1057516936
NM_000414.4(HSD17B4):c.1736del (p.Lys579fs)
NM_000414.4(HSD17B4):c.1748_1749del (p.Arg583fs) rs1554068426
NM_000414.4(HSD17B4):c.1767G>A (p.Lys589=) rs142527052
NM_000414.4(HSD17B4):c.1768-1G>A
NM_000414.4(HSD17B4):c.177del (p.Glu60fs)
NM_000414.4(HSD17B4):c.179delinsTT (p.Glu60fs)
NM_000414.4(HSD17B4):c.1854+2T>C
NM_000414.4(HSD17B4):c.1907del (p.Lys636fs) rs1057516312
NM_000414.4(HSD17B4):c.1936_1940del (p.Val646fs) rs1057517152
NM_000414.4(HSD17B4):c.1973del (p.Gly658fs)
NM_000414.4(HSD17B4):c.1993+2T>G rs1554068960
NM_000414.4(HSD17B4):c.1994-1G>A
NM_000414.4(HSD17B4):c.1994-1G>C
NM_000414.4(HSD17B4):c.1994-2A>G rs1554069592
NM_000414.4(HSD17B4):c.1A>C (p.Met1Leu) rs1488399880
NM_000414.4(HSD17B4):c.2029C>T (p.Gln677Ter) rs751646311
NM_000414.4(HSD17B4):c.2059del (p.Thr687fs)
NM_000414.4(HSD17B4):c.2071dup (p.Ser691fs)
NM_000414.4(HSD17B4):c.2072C>G (p.Ser691Ter)
NM_000414.4(HSD17B4):c.2121+1G>A
NM_000414.4(HSD17B4):c.2121+1G>C rs1554069610
NM_000414.4(HSD17B4):c.212_216del (p.Ala71fs)
NM_000414.4(HSD17B4):c.2179_2180del (p.Gln727fs) rs1057519212
NM_000414.4(HSD17B4):c.2179_2183delinsAAA (p.Gln727fs) rs1057519420
NM_000414.4(HSD17B4):c.220+2T>C rs1231357043
NM_000414.4(HSD17B4):c.2207T>A (p.Leu736His) rs1755036404
NM_000414.4(HSD17B4):c.220G>A (p.Asp74Asn)
NM_000414.4(HSD17B4):c.221-1G>C rs1554062168
NM_000414.4(HSD17B4):c.241A>T (p.Lys81Ter)
NM_000414.4(HSD17B4):c.270del (p.Phe90fs) rs1276397342
NM_000414.4(HSD17B4):c.280+1_280+3del rs2126684546
NM_000414.4(HSD17B4):c.281-2A>G rs1554062343
NM_000414.4(HSD17B4):c.290del (p.Val97fs)
NM_000414.4(HSD17B4):c.292A>G (p.Asn98Asp) rs1561442127
NM_000414.4(HSD17B4):c.293A>T (p.Asn98Ile)
NM_000414.4(HSD17B4):c.294C>G (p.Asn98Lys)
NM_000414.4(HSD17B4):c.296dup (p.Asn99fs) rs1057516672
NM_000414.4(HSD17B4):c.297_298delinsCAT (p.Ala100fs)
NM_000414.4(HSD17B4):c.298G>T (p.Ala100Ser) rs1554062352
NM_000414.4(HSD17B4):c.302+1G>A rs2126689875
NM_000414.4(HSD17B4):c.303-1G>A
NM_000414.4(HSD17B4):c.346T>C (p.Trp116Arg) rs1748532789
NM_000414.4(HSD17B4):c.349+1G>T rs1057516958
NM_000414.4(HSD17B4):c.350-1G>A
NM_000414.4(HSD17B4):c.350-1G>T
NM_000414.4(HSD17B4):c.358del (p.His120fs)
NM_000414.4(HSD17B4):c.367C>G (p.His123Asp) rs786205574
NM_000414.4(HSD17B4):c.370_376delinsGGA (p.Leu124fs)
NM_000414.4(HSD17B4):c.393dup (p.Arg132fs)
NM_000414.4(HSD17B4):c.3G>A (p.Met1Ile) rs1085307072
NM_000414.4(HSD17B4):c.421C>T (p.Gln141Ter) rs2126696915
NM_000414.4(HSD17B4):c.434+1G>C rs2126696991
NM_000414.4(HSD17B4):c.435-2A>G
NM_000414.4(HSD17B4):c.435-2A>T rs1171426785
NM_000414.4(HSD17B4):c.466T>C (p.Tyr156His) rs2126702600
NM_000414.4(HSD17B4):c.581_612del (p.Pro194fs)
NM_000414.4(HSD17B4):c.587C>A (p.Ala196Glu)
NM_000414.4(HSD17B4):c.59-1G>A
NM_000414.4(HSD17B4):c.607_610del (p.Thr203fs) rs1057516310
NM_000414.4(HSD17B4):c.623-1G>A rs1554064083
NM_000414.4(HSD17B4):c.623-1G>T rs1554064083
NM_000414.4(HSD17B4):c.623-2A>G
NM_000414.4(HSD17B4):c.625_631del (p.Leu209fs)
NM_000414.4(HSD17B4):c.638_639del (p.Leu213fs)
NM_000414.4(HSD17B4):c.639_648del (p.Lys214fs)
NM_000414.4(HSD17B4):c.652G>T (p.Val218Leu) rs1749878115
NM_000414.4(HSD17B4):c.652_656del (p.Val218fs)
NM_000414.4(HSD17B4):c.67C>T (p.Arg23Ter) rs765702241
NM_000414.4(HSD17B4):c.698dup (p.Asn233fs) rs2126740316
NM_000414.4(HSD17B4):c.709_712del (p.Phe237fs) rs1057516750
NM_000414.4(HSD17B4):c.714+1G>C
NM_000414.4(HSD17B4):c.715-1G>A
NM_000414.4(HSD17B4):c.725del (p.Gly242fs)
NM_000414.4(HSD17B4):c.739+1G>A rs1561456373
NM_000414.4(HSD17B4):c.739+1G>T
NM_000414.4(HSD17B4):c.739+2T>C
NM_000414.4(HSD17B4):c.740T>A (p.Leu247Ter)
NM_000414.4(HSD17B4):c.743G>T (p.Arg248Leu)
NM_000414.4(HSD17B4):c.752G>T (p.Arg251Leu)
NM_000414.4(HSD17B4):c.788del (p.Pro263fs) rs1561457987
NM_000414.4(HSD17B4):c.865C>T (p.Gln289Ter)
NM_000414.4(HSD17B4):c.868+1del rs749532705
NM_000414.4(HSD17B4):c.872C>G (p.Ser291Ter) rs1057516269
NM_000414.4(HSD17B4):c.936_937del (p.His312_Thr313insTer) rs758055753
NM_000414.4(HSD17B4):c.947_948del (p.Ala316fs)
NM_000414.4(HSD17B4):c.972+1G>A
NM_000414.4(HSD17B4):c.972+1del
NM_000414.4(HSD17B4):c.973-2A>C rs1057517118

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