ClinVar Miner

List of variants in gene combination CLCC1, GPSM2 reported as uncertain significance for Chudley-McCullough syndrome

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Total variants: 12
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NM_013296.5(GPSM2):c.*322T>C rs886045027
NM_013296.5(GPSM2):c.*467G>T rs548199963
NM_013296.5(GPSM2):c.*468T>G rs568302826
NM_013296.5(GPSM2):c.*7T>C rs193138520
NM_013296.5(GPSM2):c.1909C>T (p.Arg637Trp) rs189033496
NM_013296.5(GPSM2):c.1910G>A (p.Arg637Gln) rs765367400
NM_013296.5(GPSM2):c.2040A>G (p.Lys680=) rs142663817
NM_013296.5(GPSM2):c.2043G>A (p.Ser681=) rs140949805

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