ClinVar Miner

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

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Gene type:
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Total variants: 5
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HGVS dbSNP gnomAD frequency
NM_013296.5(GPSM2):c.1815+22G>A rs705268 0.33412
NM_013296.5(GPSM2):c.380G>A (p.Arg127Gln) rs41279678 0.09671
NM_013296.5(GPSM2):c.828A>G (p.Lys276=) rs338489 0.02763
NM_013296.5(GPSM2):c.1066G>A (p.Gly356Arg) rs61754640
NM_013296.5(GPSM2):c.1569TTC[1] (p.Ser525del) rs35029887

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