ClinVar Miner

List of variants reported as uncertain significance for Hereditary cancer-predisposing syndrome by GeneDx

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Total variants: 9
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HGVS dbSNP gnomAD frequency
NM_000051.4(ATM):c.5329_5349dup (p.Val1777_Glu1783dup) rs587779847
NM_000314.4:c.-(1087_1062)delGCTCGCACCCAGAGCTACCGCTCTGC
NM_000314.4:c.-(903_882)dupGGGACTCTTTATGCGCTGCGGC
NM_000314.6(PTEN):c.-868_-846dup rs786204889
NM_000314.8(PTEN):c.-734dup rs786204891
NM_000314.8(PTEN):c.126_128dup (p.Leu42_Glu43insAsp) rs786204896
NM_000551.4(VHL):c.-54_-35dup rs730882036
NM_000551.4(VHL):c.-9_5dup (p.Ala5fs) rs730882038
NM_001126049.2(KLLN):c.-848_-847insA rs786204886

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