ClinVar Miner

List of variants studied for HSD10 mitochondrial disease

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Total variants: 25
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HGVS dbSNP gnomAD frequency
NM_004493.3(HSD17B10):c.259G>A (p.Val87Ile) rs371014686 0.00011
NM_004493.3(HSD17B10):c.347G>A (p.Arg116Gln) rs782357172 0.00010
NM_004493.3(HSD17B10):c.253G>A (p.Val85Met) rs1211736877 0.00001
NM_004493.3(HSD17B10):c.364C>G (p.Leu122Val) rs28935476 0.00001
NM_004493.3(HSD17B10):c.113T>C (p.Val38Ala)
NM_004493.3(HSD17B10):c.14G>A (p.Cys5Tyr) rs2075836864
NM_004493.3(HSD17B10):c.164G>A (p.Gly55Glu) rs2075834227
NM_004493.3(HSD17B10):c.194T>C (p.Val65Ala) rs104886492
NM_004493.3(HSD17B10):c.218C>G (p.Thr73Arg) rs794729644
NM_004493.3(HSD17B10):c.257A>G (p.Asp86Gly) rs587777651
NM_004493.3(HSD17B10):c.323C>T (p.Thr108Ile)
NM_004493.3(HSD17B10):c.388C>T (p.Arg130Cys) rs28935475
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.574C>A (p.Arg192=) rs122462164
NM_004493.3(HSD17B10):c.592C>A (p.Pro198Thr) rs886037927
NM_004493.3(HSD17B10):c.62G>T (p.Gly21Val)
NM_004493.3(HSD17B10):c.634A>G (p.Lys212Glu) rs886041974
NM_004493.3(HSD17B10):c.660A>C (p.Gln220His) rs1602426334
NM_004493.3(HSD17B10):c.677G>A (p.Arg226Gln) rs1556894502
NM_004493.3(HSD17B10):c.706C>T (p.Leu236Phe)
NM_004493.3(HSD17B10):c.740A>G (p.Asn247Ser) rs122461163
NM_004493.3(HSD17B10):c.745G>C (p.Glu249Gln) rs62626305
NM_004493.3(HSD17B10):c.753C>G (p.Ile251Met) rs2075824424
NM_004493.3(HSD17B10):c.85C>G (p.Arg29Gly) rs1348504554

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