ClinVar Miner

List of variants reported as not provided for polydactyly-syndactyly-triphalangism

Included ClinVar conditions (78):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 8
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HGVS dbSNP gnomAD frequency
NM_198525.3(KIF7):c.1177G>T (p.Gly393Cys) rs553968087 0.00007
NM_002334.4(LRP4):c.2861A>G (p.Tyr954Cys) rs775608977 0.00002
NM_025114.4(CEP290):c.3708dup (p.Arg1237fs) rs758991387 0.00002
NM_000142.5(FGFR3):c.1331C>T (p.Ser444Phe) rs761325047 0.00001
NM_000168.6(GLI3):c.776C>G (p.Ala259Gly) rs565817241
NM_002968.3(SALL1):c.3160C>T (p.Arg1054Ter) rs864321635
NM_002968.3(SALL1):c.826C>T (p.Arg276Ter) rs104894537
NM_025114.4(CEP290):c.1219_1220del (p.Met407fs) rs386834148

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