ClinVar Miner

List of variants reported as likely pathogenic for Spondylocarpotarsal synostosis syndrome

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Total variants: 5
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NM_001457.4(FLNB):c.3446_3455del (p.Gly1149fs) rs1553701033
NM_001457.4(FLNB):c.4768_4771del (p.Ile1590fs) rs1553703909
NM_002470.4(MYH3):c.1934T>G (p.Phe645Cys) rs1567557697
NM_002470.4(MYH3):c.2699del (p.Leu900fs) rs1567556169
NM_002470.4(MYH3):c.724_726TCC[1] (p.Ser243del) rs1555527166

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