ClinVar Miner

List of variants in gene GPSM2 reported as likely benign for Chudley-McCullough syndrome

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Total variants: 8
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HGVS dbSNP
NM_013296.5(GPSM2):c.-258C>T rs35520362
NM_013296.5(GPSM2):c.-429C>T rs115082541
NM_013296.5(GPSM2):c.1370C>T (p.Thr457Met) rs35089879
NM_013296.5(GPSM2):c.278+5T>C rs9727773
NM_013296.5(GPSM2):c.380G>A (p.Arg127Gln) rs41279678
NM_013296.5(GPSM2):c.753A>G (p.Ala251=) rs12069435
NM_013296.5(GPSM2):c.828A>G (p.Lys276=) rs338489
NM_013296.5(GPSM2):c.87G>A (p.Leu29=) rs112935966

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