ClinVar Miner

List of variants in gene HSD17B10 studied for X-linked syndromic intellectual disability

Included ClinVar conditions (212):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 14
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NM_001037811.2(HSD17B10):c.194T>C (p.Val65Ala) rs104886492
NM_001037811.2(HSD17B10):c.218C>G (p.Thr73Arg) rs794729644
NM_001037811.2(HSD17B10):c.253G>A (p.Val85Met) rs1211736877
NM_001037811.2(HSD17B10):c.257A>G (p.Asp86Gly) rs587777651
NM_001037811.2(HSD17B10):c.259G>A (p.Val87Ile) rs371014686
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.568+6C>A rs122462164
NM_001037811.2(HSD17B10):c.607A>G (p.Lys203Glu) rs886041974
NM_001037811.2(HSD17B10):c.713A>G (p.Asn238Ser) rs122461163
NM_001037811.2(HSD17B10):c.718G>C (p.Glu240Gln) rs62626305
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.753C>G (p.Ile251Met)

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