ClinVar Miner

List of variants reported as pathogenic for coxopodopatellar syndrome by OMIM

Included ClinVar conditions (1):

Ischiopatellar dysplasia

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Total variants: 4

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HGVS	dbSNP
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.355dup (p.Ile119fs)	rs1569036773
NM_001321120.2(TBX4):c.743G>T (p.Gly248Val)	rs28938474

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