ClinVar Miner

List of variants in gene HHAT studied for chondrodysplasia-pseudohermaphroditism syndrome

Included ClinVar conditions (1):
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Total variants: 4
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HGVS dbSNP gnomAD frequency
NM_018194.6(HHAT):c.997G>A (p.Gly333Arg) rs61744143 0.00834
NM_018194.6(HHAT):c.860G>T (p.Gly287Val) rs1173716957 0.00001
NM_018194.6(HHAT):c.362CCA[1] (p.Thr122del) rs2148196864
NM_018194.6(HHAT):c.770T>C (p.Leu257Pro) rs2092784129

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