ClinVar Miner

List of variants in gene HSD17B10 reported as likely pathogenic for HSD10 disease, atypical type

Included ClinVar conditions (1):
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Total variants: 8
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HGVS dbSNP gnomAD frequency
NM_004493.3(HSD17B10):c.164G>A (p.Gly55Glu) rs2075834227
NM_004493.3(HSD17B10):c.439C>T (p.Arg147Cys) rs1064794694
NM_004493.3(HSD17B10):c.517G>C (p.Gly173Arg) rs1602426573
NM_004493.3(HSD17B10):c.592C>A (p.Pro198Thr) rs886037927
NM_004493.3(HSD17B10):c.677G>A (p.Arg226Gln) rs1556894502
NM_004493.3(HSD17B10):c.706C>T (p.Leu236Phe)
NM_004493.3(HSD17B10):c.753C>G (p.Ile251Met) rs2075824424
NM_004493.3(HSD17B10):c.85C>G (p.Arg29Gly) rs1348504554

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