ClinVar Miner

List of variants in gene GCM2 reported as uncertain significance for connective tissue neoplasm

Included ClinVar conditions (133):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 13
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HGVS dbSNP gnomAD frequency
NM_004752.4(GCM2):c.1181A>C (p.Tyr394Ser) rs142287570 0.00050
NM_004752.4(GCM2):c.319G>A (p.Asp107Asn) rs61741855 0.00043
NM_004752.4(GCM2):c.1063G>A (p.Ala355Thr) rs764488668 0.00007
NM_004752.4(GCM2):c.1144G>A (p.Val382Met) rs371918069 0.00006
NM_004752.4(GCM2):c.1364G>A (p.Arg455Gln) rs145103332 0.00004
NM_004752.4(GCM2):c.116G>A (p.Arg39Gln) rs534895356 0.00001
NM_004752.4(GCM2):c.1504A>C (p.Asn502His) rs533942394 0.00001
NM_004752.4(GCM2):c.1003C>T (p.Pro335Ser)
NM_004752.4(GCM2):c.1166T>C (p.Val389Ala)
NM_004752.4(GCM2):c.1398G>C (p.Glu466Asp) rs537546612
NM_004752.4(GCM2):c.139C>T (p.Arg47Cys)
NM_004752.4(GCM2):c.307C>T (p.Pro103Ser) rs1561672362
NM_004752.4(GCM2):c.523A>T (p.Ile175Phe)

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