ClinVar Miner

List of variants studied for polydactyly-syndactyly-triphalangism by Molecular Genetics, Royal Melbourne Hospital

Included ClinVar conditions (78):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 2
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HGVS dbSNP gnomAD frequency
NM_005631.5(SMO):c.1939C>T (p.Pro647Ser) rs34545616 0.00579
NM_198525.3(KIF7):c.2560_2570del (p.Ala854fs) rs762662896

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