ClinVar Miner

List of variants in gene HSD17B4 reported as pathogenic for auditory system disease

Included ClinVar conditions (549):
Minimum submission review status: Collection method:
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Gene type:
ClinVar version:
Total variants: 31
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HGVS dbSNP
NC_000005.9:g.(?_118788261)_(118807405_?)del
NC_000005.9:g.(?_118865579)_(118867109_?)del
NM_000414.4(HSD17B4):c.101C>T (p.Ala34Val) rs587777442
NM_000414.4(HSD17B4):c.1147C>T (p.Gln383Ter)
NM_000414.4(HSD17B4):c.1210-1G>A rs1554065671
NM_000414.4(HSD17B4):c.1352del (p.Lys451fs)
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.1424C>G (p.Ser475Ter)
NM_000414.4(HSD17B4):c.1499del (p.Asn500fs)
NM_000414.4(HSD17B4):c.1516C>T (p.Arg506Cys) rs766199971
NM_000414.4(HSD17B4):c.1537C>A (p.Pro513Thr)
NM_000414.4(HSD17B4):c.1538C>T (p.Pro513Leu) rs587777444
NM_000414.4(HSD17B4):c.1547T>C (p.Ile516Thr) rs587777443
NM_000414.4(HSD17B4):c.1578del (p.Phe526fs) rs1561485663
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.1659_1660dup (p.Ser554fs)
NM_000414.4(HSD17B4):c.1704T>A (p.Tyr568Ter) rs1038744864
NM_000414.4(HSD17B4):c.1717_1718del (p.Leu573fs) rs1057516936
NM_000414.4(HSD17B4):c.1748_1749del (p.Arg583fs) rs1554068426
NM_000414.4(HSD17B4):c.1921G>T (p.Glu641Ter)
NM_000414.4(HSD17B4):c.1951G>T (p.Glu651Ter)
NM_000414.4(HSD17B4):c.2029C>T (p.Gln677Ter) rs751646311
NM_000414.4(HSD17B4):c.421C>T (p.Gln141Ter)
NM_000414.4(HSD17B4):c.46G>A (p.Gly16Ser) rs137853096
NM_000414.4(HSD17B4):c.58+1G>C
NM_000414.4(HSD17B4):c.650A>G (p.Tyr217Cys) rs387906825
NM_000414.4(HSD17B4):c.742C>T (p.Arg248Cys) rs969485098
NM_000414.4(HSD17B4):c.911C>G (p.Ser304Ter)
NM_000414.4(HSD17B4):c.936_937del (p.His312_Thr313insTer) rs758055753

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