ClinVar Miner

List of variants in gene NOTCH2 reported as uncertain significance by CeGaT Center for Human Genetics Tuebingen

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Total variants: 22
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HGVS dbSNP gnomAD frequency
NM_024408.4(NOTCH2):c.5276T>C (p.Val1759Ala) rs373166152 0.00011
NM_024408.4(NOTCH2):c.4692C>G (p.Ser1564Arg) rs774541297 0.00004
NM_024408.4(NOTCH2):c.6767G>A (p.Arg2256His) rs148759277 0.00004
NM_024408.4(NOTCH2):c.719G>C (p.Gly240Ala) rs1464974590 0.00002
NM_024408.4(NOTCH2):c.85C>T (p.Arg29Ter) rs1174406807 0.00002
NM_024408.4(NOTCH2):c.390G>A (p.Glu130=) rs782723019 0.00001
NM_024408.4(NOTCH2):c.5731C>T (p.Arg1911Cys) rs748716440 0.00001
NM_024408.4(NOTCH2):c.6881T>C (p.Ile2294Thr) rs754682986 0.00001
NM_024408.4(NOTCH2):c.7120C>G (p.His2374Asp) rs1374498324 0.00001
GRCh37/hg19 1p12-11.2(chr1:120546301-120608823)x1
NM_024408.4(NOTCH2):c.1079_1081del (p.Phe360del) rs1570701950
NM_024408.4(NOTCH2):c.1222A>G (p.Lys408Glu)
NM_024408.4(NOTCH2):c.1561C>T (p.Pro521Ser)
NM_024408.4(NOTCH2):c.1663G>A (p.Glu555Lys) rs1475043862
NM_024408.4(NOTCH2):c.203G>A (p.Cys68Tyr) rs782412559
NM_024408.4(NOTCH2):c.2906A>G (p.Asn969Ser)
NM_024408.4(NOTCH2):c.5795A>G (p.Asn1932Ser) rs1387359334
NM_024408.4(NOTCH2):c.6106C>T (p.Arg2036Ter) rs2101145073
NM_024408.4(NOTCH2):c.6837T>C (p.His2279=) rs886044699
NM_024408.4(NOTCH2):c.728C>G (p.Thr243Ser) rs1652486654
NM_024408.4(NOTCH2):c.731T>C (p.Phe244Ser)
NM_024408.4(NOTCH2):c.751+6G>C rs2101210410

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