ClinVar Miner

List of variants in gene TBX4 reported as pathogenic for coxopodopatellar syndrome

Included ClinVar conditions (1):
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Total variants: 10
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HGVS dbSNP
NM_001321120.2(TBX4):c.1057C>T (p.Arg353Ter)
NM_001321120.2(TBX4):c.1595A>G (p.Gln532Arg) rs28936696
NM_001321120.2(TBX4):c.184C>T (p.Gln62Ter) rs104894648
NM_001321120.2(TBX4):c.251del (p.Gly84fs)
NM_001321120.2(TBX4):c.281+1G>T
NM_001321120.2(TBX4):c.339T>A (p.Tyr113Ter)
NM_001321120.2(TBX4):c.355dup (p.Ile119fs) rs1569036773
NM_001321120.2(TBX4):c.557T>G (p.Leu186Arg) rs886041115
NM_001321120.2(TBX4):c.743G>T (p.Gly248Val) rs28938474
NM_001321120.2(TBX4):c.792-1G>C

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