ClinVar Miner

List of variants reported as likely pathogenic for Distal arthrogryposis type 5D

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Total variants: 6
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NM_004826.4(ECEL1):c.1209G>T (p.Trp403Cys) rs1553567411
NM_004826.4(ECEL1):c.1210C>T (p.Arg404Cys) rs532757890
NM_004826.4(ECEL1):c.1797-8G>A rs1553566820
NM_004826.4(ECEL1):c.1990-3C>G rs1229171141
NM_004826.4(ECEL1):c.1A>G (p.Met1Val) rs1356994386
NM_004826.4(ECEL1):c.2023G>A (p.Ala675Thr) rs606231471

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