ClinVar Miner

List of variants reported as likely pathogenic for Distal shortening of limbs

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Total variants: 4
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NM_001448.3(GPC4):c.1235G>A (p.Arg412Lys) rs1556022962
NM_005052.3(RAC3):c.176C>G (p.Ala59Gly) rs1379395211
NM_022463.5(NXN):c.625C>T (p.Arg209Ter) rs1555610590

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