ClinVar Miner

List of variants studied for Camptodactyly-arthropathy-coxa vara-pericarditis syndrome by OMIM

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Total variants: 6
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HGVS dbSNP gnomAD frequency
NC_000001.10:g.(?_186265850)_(186266785_?)del
NM_005807.6(PRG4):c.2806_2810del (p.Lys936fs) rs763025365
NM_005807.6(PRG4):c.3254_3260del (p.Asn1084_Ser1085insTer) rs769917456
NM_005807.6(PRG4):c.4190_4191delinsAG (p.Ser1397Ter) rs387906339
PRG4, 2-BP DEL, NT3023
PRG4, IVS6, 41-BP INS

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