ClinVar Miner

List of variants reported as likely pathogenic for distal arthrogryposis type 5D by Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine

Included ClinVar conditions (1):

Distal arthrogryposis type 5D

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Minimum conflict level: Report conflict between different conditions
Show significances as they were submitted (without aggregation into standard terms)
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Total variants: 2

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HGVS	dbSNP	gnomAD frequency
NM_004826.4(ECEL1):c.1210C>T (p.Arg404Cys)	rs532757890	0.00001
NM_004826.4(ECEL1):c.2023G>A (p.Ala675Thr)	rs606231471	0.00001

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