ClinVar Miner

List of variants in gene NOTCH2 reported as uncertain significance by GeneDx

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Gene type:
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Total variants: 41
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HGVS dbSNP gnomAD frequency
NM_024408.4(NOTCH2):c.4897G>A (p.Val1633Ile) rs116321057 0.00085
NM_024408.4(NOTCH2):c.5624G>A (p.Arg1875Gln) rs148613210 0.00004
NM_024408.4(NOTCH2):c.2993A>G (p.Asn998Ser) rs782277113 0.00001
NM_024408.4(NOTCH2):c.4457C>T (p.Thr1486Met) rs762374093 0.00001
NM_024408.4(NOTCH2):c.760G>T (p.Gly254Trp) rs1553202314 0.00001
NM_024408.4(NOTCH2):c.1019A>G (p.Asp340Gly) rs1557826735
NM_024408.4(NOTCH2):c.1072G>T (p.Ala358Ser)
NM_024408.4(NOTCH2):c.1132G>A (p.Ala378Thr)
NM_024408.4(NOTCH2):c.1184T>A (p.Leu395Gln)
NM_024408.4(NOTCH2):c.1318T>A (p.Phe440Ile)
NM_024408.4(NOTCH2):c.1436C>T (p.Thr479Ile) rs2101143667
NM_024408.4(NOTCH2):c.1775C>A (p.Thr592Asn) rs1651030166
NM_024408.4(NOTCH2):c.1823T>C (p.Ile608Thr)
NM_024408.4(NOTCH2):c.2399C>T (p.Ala800Val)
NM_024408.4(NOTCH2):c.2597A>T (p.Gln866Leu) rs2101115501
NM_024408.4(NOTCH2):c.2641C>A (p.Pro881Thr)
NM_024408.4(NOTCH2):c.3467A>C (p.Asn1156Thr)
NM_024408.4(NOTCH2):c.415G>C (p.Gly139Arg) rs1131692007
NM_024408.4(NOTCH2):c.4462G>C (p.Glu1488Gln) rs1131691315
NM_024408.4(NOTCH2):c.4752G>C (p.Gln1584His) rs1649366904
NM_024408.4(NOTCH2):c.4991T>A (p.Val1664Glu)
NM_024408.4(NOTCH2):c.5195A>G (p.Gln1732Arg) rs2101154174
NM_024408.4(NOTCH2):c.5518G>A (p.Gly1840Ser) rs1064796810
NM_024408.4(NOTCH2):c.5723A>G (p.Asn1908Ser) rs1649194488
NM_024408.4(NOTCH2):c.5798G>A (p.Arg1933Gln)
NM_024408.4(NOTCH2):c.5894A>G (p.Asn1965Ser) rs2101148035
NM_024408.4(NOTCH2):c.5951C>A (p.Ala1984Glu)
NM_024408.4(NOTCH2):c.5954C>A (p.Ala1985Asp) rs2101146997
NM_024408.4(NOTCH2):c.6212C>T (p.Pro2071Leu) rs2101144758
NM_024408.4(NOTCH2):c.6424T>C (p.Ser2142Pro) rs2101144199
NM_024408.4(NOTCH2):c.6533C>A (p.Ala2178Asp) rs770234870
NM_024408.4(NOTCH2):c.6588G>C (p.Gln2196His)
NM_024408.4(NOTCH2):c.6618A>C (p.Glu2206Asp) rs2101143543
NM_024408.4(NOTCH2):c.6671T>C (p.Leu2224Ser)
NM_024408.4(NOTCH2):c.6806G>T (p.Gly2269Val) rs1553193512
NM_024408.4(NOTCH2):c.7195G>A (p.Glu2399Lys)
NM_024408.4(NOTCH2):c.7205C>G (p.Pro2402Arg)
NM_024408.4(NOTCH2):c.820G>A (p.Val274Ile)
NM_024408.4(NOTCH2):c.846C>T (p.Tyr282=)
NM_024408.4(NOTCH2):c.965A>G (p.Tyr322Cys) rs1557826779
NM_024408.4(NOTCH2):c.983A>G (p.Asn328Ser) rs2101148388

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