ClinVar Miner

List of variants studied for HSD10 disease

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Total variants: 12
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HGVS dbSNP
NM_004493.2(HSD17B10):c.194T>C (p.Val65Ala) rs104886492
NM_004493.2(HSD17B10):c.218C>G (p.Thr73Arg) rs794729644
NM_004493.2(HSD17B10):c.253G>A (p.Val85Met) rs1211736877
NM_004493.2(HSD17B10):c.257A>G (p.Asp86Gly) rs587777651
NM_004493.2(HSD17B10):c.259G>A (p.Val87Ile) rs371014686
NM_004493.2(HSD17B10):c.364C>G (p.Leu122Val) rs28935476
NM_004493.2(HSD17B10):c.388C>T (p.Arg130Cys) rs28935475
NM_004493.2(HSD17B10):c.574C>A (p.Arg192=) rs122462164
NM_004493.2(HSD17B10):c.592C>A (p.Pro198Thr) rs886037927
NM_004493.2(HSD17B10):c.634A>G (p.Lys212Glu) rs886041974
NM_004493.2(HSD17B10):c.740A>G (p.Asn247Ser) rs122461163
NM_004493.2(HSD17B10):c.745G>C (p.Glu249Gln) rs62626305

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