ClinVar Miner

List of variants in gene HSD17B4 reported as likely benign for Perrault syndrome 1

Included ClinVar conditions (2):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 8
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HGVS dbSNP
NC_000005.10:g.119452457C>G
NM_000414.4(HSD17B4):c.*135T>G rs185522709
NM_000414.4(HSD17B4):c.*278T>A rs149665666
NM_000414.4(HSD17B4):c.*83T>G rs181310520
NM_000414.4(HSD17B4):c.1471G>A (p.Ala491Thr) rs28943591
NM_000414.4(HSD17B4):c.1566T>A (p.Ser522Arg) rs184492796
NM_000414.4(HSD17B4):c.715-13C>T rs185869017
NM_000414.4(HSD17B4):c.875C>G (p.Thr292Ser) rs1143650

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