ClinVar Miner

List of variants reported as likely benign for Perrault syndrome 1

Included ClinVar conditions (2):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 9
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HGVS dbSNP gnomAD frequency
NM_000414.4(HSD17B4):c.875C>G (p.Thr292Ser) rs1143650 0.02248
NM_000414.4(HSD17B4):c.*278T>A rs149665666 0.00333
NM_000414.4(HSD17B4):c.715-13C>T rs185869017 0.00213
NM_000414.4(HSD17B4):c.*83T>G rs181310520 0.00199
NM_000414.3(HSD17B4):c.-119C>G rs11739468 0.00087
NM_000414.4(HSD17B4):c.*135T>G rs185522709 0.00065
NM_000414.4(HSD17B4):c.1261+14A>G rs371682983 0.00029
NM_000414.4(HSD17B4):c.1566T>A (p.Ser522Arg) rs184492796 0.00005
NM_000414.4(HSD17B4):c.1471G>A (p.Ala491Thr) rs28943591

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