ClinVar Miner

List of variants in gene BHLHA9 studied for polydactyly-syndactyly-triphalangism

Included ClinVar conditions (78):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 5
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HGVS dbSNP gnomAD frequency
NM_001164405.2(BHLHA9):c.237A>G (p.Leu79=) rs3951819 0.33804
NM_001164405.2(BHLHA9):c.218G>C (p.Arg73Pro) rs672601338 0.00001
NM_001164405.2(BHLHA9):c.211A>G (p.Asn71Asp) rs672601337
NM_001164405.2(BHLHA9):c.218G>T (p.Arg73Leu)
NM_001164405.2(BHLHA9):c.224G>T (p.Arg75Leu) rs672601339

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