ClinVar Miner

List of variants in gene HSD17B4 reported as uncertain significance for Perrault syndrome 1

Included ClinVar conditions (2):
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Total variants: 34
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HGVS dbSNP
NC_000005.10:g.119452446C>T
NM_000414.4(HSD17B4):c.*123A>G
NM_000414.4(HSD17B4):c.*134C>T rs543194892
NM_000414.4(HSD17B4):c.-75C>A
NM_000414.4(HSD17B4):c.112+11G>A
NM_000414.4(HSD17B4):c.1131C>T (p.Phe377=) rs200347945
NM_000414.4(HSD17B4):c.1210-8T>C rs34254740
NM_000414.4(HSD17B4):c.1213C>T (p.Leu405Phe) rs746616691
NM_000414.4(HSD17B4):c.1263A>G (p.Gly421=)
NM_000414.4(HSD17B4):c.1357C>T (p.Leu453Phe) rs372898042
NM_000414.4(HSD17B4):c.1417C>T (p.Arg473Trp) rs201455193
NM_000414.4(HSD17B4):c.1596T>C (p.His532=) rs758045328
NM_000414.4(HSD17B4):c.161C>A (p.Ala54Asp) rs141517981
NM_000414.4(HSD17B4):c.1628G>A (p.Arg543His) rs201009485
NM_000414.4(HSD17B4):c.1683T>C (p.Ala561=)
NM_000414.4(HSD17B4):c.1854+7T>C rs886059822
NM_000414.4(HSD17B4):c.1929G>A (p.Val643=) rs148189286
NM_000414.4(HSD17B4):c.1934A>C (p.Lys645Thr)
NM_000414.4(HSD17B4):c.2025G>A (p.Val675=) rs763204818
NM_000414.4(HSD17B4):c.2033G>A (p.Gly678Asp)
NM_000414.4(HSD17B4):c.230A>G (p.Glu77Gly) rs769358132
NM_000414.4(HSD17B4):c.268T>C (p.Phe90Leu) rs28943588
NM_000414.4(HSD17B4):c.388G>A (p.Val130Met)
NM_000414.4(HSD17B4):c.482A>C (p.Gln161Pro)
NM_000414.4(HSD17B4):c.622+5G>A rs536487449
NM_000414.4(HSD17B4):c.643C>A (p.Pro215Thr)
NM_000414.4(HSD17B4):c.718G>A (p.Gly240Arg) rs886059821
NM_000414.4(HSD17B4):c.790A>G (p.Met264Val)
NM_000414.4(HSD17B4):c.811G>A (p.Ala271Thr) rs543710228
NM_000414.4(HSD17B4):c.844G>C (p.Ala282Pro)
NM_000414.4(HSD17B4):c.943C>T (p.Arg315Cys) rs373503389
NM_000414.4(HSD17B4):c.950C>T (p.Thr317Met) rs150326995
NM_000414.4(HSD17B4):c.951G>A (p.Thr317=) rs779198396
NM_000414.4(HSD17B4):c.994C>T (p.Leu332Phe) rs370579120

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