ClinVar Miner

List of variants reported as uncertain significance for HSD10 disease, atypical type

Included ClinVar conditions (1):
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Total variants: 10
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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.113T>C (p.Val38Ala)
NM_004493.3(HSD17B10):c.11C>G (p.Ala4Gly)
NM_004493.3(HSD17B10):c.14G>A (p.Cys5Tyr) rs2075836864
NM_004493.3(HSD17B10):c.218C>G (p.Thr73Arg) rs794729644
NM_004493.3(HSD17B10):c.323C>T (p.Thr108Ile)
NM_004493.3(HSD17B10):c.62G>T (p.Gly21Val)
NM_004493.3(HSD17B10):c.660A>C (p.Gln220His) rs1602426334

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