ClinVar Miner

List of variants studied for polydactyly-syndactyly-triphalangism by Clinical Genetics and Genomics, Karolinska University 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_025114.4(CEP290):c.1079G>A (p.Arg360Gln) rs188164241 0.00405
NM_025114.4(CEP290):c.164_167del (p.Thr55fs) rs758550675

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