ClinVar Miner

List of variants reported as likely pathogenic for Chudley-McCullough syndrome

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Total variants: 8
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HGVS dbSNP gnomAD frequency
NM_013296.5(GPSM2):c.1661C>A (p.Ser554Ter) rs145191476 0.00006
NM_013296.5(GPSM2):c.1601-2A>G rs773445398 0.00004
NM_013296.5(GPSM2):c.1264-1G>T rs2101528079
NM_013296.5(GPSM2):c.1473_1474delinsAACC (p.Phe492fs) rs2101542489
NM_013296.5(GPSM2):c.1501del (p.Ser501fs) rs761092578
NM_013296.5(GPSM2):c.1600+3A>C
NM_013296.5(GPSM2):c.681+1G>A
NM_013296.5(GPSM2):c.858_859delinsGT (p.Tyr286_Ser287delinsTer) rs2101429459

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