ClinVar Miner

List of variants studied for HSD10 disease by OMIM

Included ClinVar conditions (1):
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Total variants: 8
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HGVS dbSNP
NM_001037811.2(HSD17B10):c.194T>C (p.Val65Ala) rs104886492
NM_001037811.2(HSD17B10):c.257A>G (p.Asp86Gly) rs587777651
NM_001037811.2(HSD17B10):c.364C>G (p.Leu122Val) rs28935476
NM_001037811.2(HSD17B10):c.388C>T (p.Arg130Cys) rs28935475
NM_001037811.2(HSD17B10):c.713A>G (p.Asn238Ser) rs122461163
NM_001037811.2(HSD17B10):c.718G>C (p.Glu240Gln) rs62626305
NM_004493.2(HSD17B10):c.574C>A (p.Arg192=) rs122462164
NM_004493.2(HSD17B10):c.634A>G (p.Lys212Glu) rs886041974

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