ClinVar Miner

List of variants studied for polydactyly-syndactyly-triphalangism by Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine

Included ClinVar conditions (78):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 4
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HGVS dbSNP gnomAD frequency
NM_002968.3(SALL1):c.130G>A (p.Val44Ile) rs373744120 0.00001
NM_000168.6(GLI3):c.1673C>A (p.Ser558Ter) rs1356013382
NM_000523.4(HOXD13):c.623A>T (p.Asp208Val) rs2105379098
NM_002968.3(SALL1):c.448AGC[7] (p.Ser157_Ser159del) rs113614842

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