ClinVar Miner

List of variants in gene HSD17B4 reported by Baylor Genetics

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Gene type:
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Total variants: 62
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HGVS dbSNP gnomAD frequency
NM_000414.4(HSD17B4):c.743G>A (p.Arg248His) rs748057401 0.00003
NM_000414.4(HSD17B4):c.394C>T (p.Arg132Trp) rs773305477 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.1516C>T (p.Arg506Cys) rs766199971 0.00001
NM_000414.4(HSD17B4):c.1547T>C (p.Ile516Thr) rs587777443 0.00001
NM_000414.4(HSD17B4):c.1704T>A (p.Tyr568Ter) rs1038744864 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.742C>T (p.Arg248Cys) rs969485098 0.00001
NM_000414.4(HSD17B4):c.752G>A (p.Arg251Gln) rs773024366 0.00001
NM_000414.4(HSD17B4):c.1132G>A (p.Gly378Arg) rs1006852881
NM_000414.4(HSD17B4):c.1214T>C (p.Leu405Pro)
NM_000414.4(HSD17B4):c.1233dup (p.Glu412fs) rs2126790164
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.1480dup (p.Thr494fs)
NM_000414.4(HSD17B4):c.1503+1G>A
NM_000414.4(HSD17B4):c.1517G>A (p.Arg506His) rs1554068136
NM_000414.4(HSD17B4):c.1573+1G>A
NM_000414.4(HSD17B4):c.1595A>G (p.His532Arg) rs1554068272
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.1681-1G>C
NM_000414.4(HSD17B4):c.1736del (p.Lys579fs)
NM_000414.4(HSD17B4):c.1768-1G>A
NM_000414.4(HSD17B4):c.177del (p.Glu60fs)
NM_000414.4(HSD17B4):c.1854+2T>C
NM_000414.4(HSD17B4):c.1973del (p.Gly658fs)
NM_000414.4(HSD17B4):c.1994-1G>A
NM_000414.4(HSD17B4):c.1994-1G>C
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.212_216del (p.Ala71fs)
NM_000414.4(HSD17B4):c.2207T>A (p.Leu736His) rs1755036404
NM_000414.4(HSD17B4):c.220G>A (p.Asp74Asn)
NM_000414.4(HSD17B4):c.270del (p.Phe90fs) rs1276397342
NM_000414.4(HSD17B4):c.297_298delinsCAT (p.Ala100fs)
NM_000414.4(HSD17B4):c.350-1G>A
NM_000414.4(HSD17B4):c.350A>T (p.Asp117Val)
NM_000414.4(HSD17B4):c.423_424del (p.Lys142fs) rs775832137
NM_000414.4(HSD17B4):c.435-2A>G
NM_000414.4(HSD17B4):c.581_612del (p.Pro194fs)
NM_000414.4(HSD17B4):c.59-1G>A
NM_000414.4(HSD17B4):c.623-2A>G
NM_000414.4(HSD17B4):c.652G>T (p.Val218Leu) rs1749878115
NM_000414.4(HSD17B4):c.673C>T (p.Leu225Phe) rs1749881286
NM_000414.4(HSD17B4):c.67C>T (p.Arg23Ter) rs765702241
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+2T>C
NM_000414.4(HSD17B4):c.740T>A (p.Leu247Ter)
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.972+1G>A
NM_000414.4(HSD17B4):c.972+1del

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