ClinVar Miner

List of variants reported as pathogenic for Camptodactyly-arthropathy-coxa vara-pericarditis syndrome by 3billion

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Total variants: 3

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HGVS	dbSNP	gnomAD frequency
NM_005807.6(PRG4):c.1910_1911del (p.Pro637fs)	rs780281715	0.00001
NM_005807.6(PRG4):c.2894_2898del (p.Thr965fs)	rs2102028973
NM_005807.6(PRG4):c.301G>T (p.Glu101Ter)	rs748999850

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