ClinVar Miner

List of variants studied for polydactyly-syndactyly-triphalangism by GenomeConnect, ClinGen

Included ClinVar conditions (78):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 3
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HGVS dbSNP gnomAD frequency
NM_025114.4(CEP290):c.3708dup (p.Arg1237fs) rs758991387 0.00002
NM_000142.5(FGFR3):c.1331C>T (p.Ser444Phe) rs761325047 0.00001
NM_025114.4(CEP290):c.1219_1220del (p.Met407fs) rs386834148

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