List of variants in gene HSD17B4 reported as pathogenic by OMIM

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 12

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HGVS	dbSNP	gnomAD frequency
NM_000414.4(HSD17B4):c.101C>T (p.Ala34Val)	rs587777442	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.1212_1261+2del	rs1554065670
NM_000414.4(HSD17B4):c.1369A>T (p.Asn457Tyr)	rs137853097
NM_000414.4(HSD17B4):c.145_220+63del
NM_000414.4(HSD17B4):c.1538C>T (p.Pro513Leu)	rs587777444
NM_000414.4(HSD17B4):c.1628G>C (p.Arg543Pro)	rs201009485
NM_000414.4(HSD17B4):c.317G>C (p.Arg106Pro)	rs25640
NM_000414.4(HSD17B4):c.423_424del (p.Lys142fs)	rs775832137
NM_000414.4(HSD17B4):c.650A>G (p.Tyr217Cys)	rs387906825
NM_000414.4(HSD17B4):c.974_1209+1del	rs1554065254

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