ClinVar Miner

List of variants reported as pathogenic for autosomal recessive amelia

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 3
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HGVS dbSNP gnomAD frequency
NM_001321120.2(TBX4):c.339T>A (p.Tyr113Ter) rs1603251001
NM_001321120.2(TBX4):c.379T>A (p.Tyr127Asn) rs2143821228
NM_001321120.2(TBX4):c.402G>A (p.Trp134Ter) rs1603251494

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