ClinVar Miner

List of variants studied for polydactyly-syndactyly-triphalangism by Genetics and Molecular Pathology, SA Pathology

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.475A>G (p.Ser159Gly) rs13336129 0.06797
NM_002968.3(SALL1):c.1778G>A (p.Ser593Asn) rs748432190 0.00001
NM_002968.3(SALL1):c.601C>T (p.Gln201Ter) rs2143450145
NM_152515.5(CKAP2L):c.501del (p.Asn167fs) rs2104884982

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