ClinVar Miner

List of variants in gene MAP3K20 reported as pathogenic for congenital limb malformation

Included ClinVar conditions (336):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 3
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HGVS dbSNP gnomAD frequency
NM_016653.2(MAP3K20):c.988-4814_1359+60del
NM_016653.3(MAP3K20):c.1103T>G (p.Phe368Cys) rs863225437
NM_016653.3(MAP3K20):c.1592C>A (p.Ser531Ter) rs3769148

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