ClinVar Miner

List of variants studied for congenital limb malformation by UNC Molecular Genetics Laboratory, University of North Carolina at Chapel Hill

Included ClinVar conditions (336):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 7
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HGVS dbSNP gnomAD frequency
NM_005105.5(RBM8A):c.-21G>A rs139428292 0.01871
NM_016111.4(TELO2):c.1100G>T (p.Cys367Phe) rs202020308 0.00016
NM_016111.4(TELO2):c.392G>A (p.Gly131Asp) rs187225056 0.00006
NM_018684.4(ZC4H2):c.246A>C (p.Gln82His) rs778806442 0.00001
NM_001429.4(EP300):c.4532A>T (p.Asn1511Ile)
NM_002470.4(MYH3):c.356C>T (p.Ser119Leu) rs2142423298
NM_004380.3(CREBBP):c.283G>A (p.Val95Met) rs756802946

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