ClinVar Miner

List of variants in gene NOTCH3 reported as uncertain significance for Inborn genetic diseases

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Total variants: 75
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HGVS dbSNP gnomAD frequency
NM_000435.3(NOTCH3):c.4025C>A (p.Ala1342Asp) rs888391580 0.00070
NM_000435.3(NOTCH3):c.5992C>T (p.Arg1998Cys) rs201105335 0.00046
NM_000435.3(NOTCH3):c.3629G>A (p.Arg1210His) rs35031555 0.00041
NM_000435.3(NOTCH3):c.6611C>T (p.Pro2204Leu) rs371738874 0.00014
NM_000435.3(NOTCH3):c.6238C>T (p.Arg2080Trp) rs113178142 0.00011
NM_000435.3(NOTCH3):c.4046C>T (p.Ser1349Phe) rs937871148 0.00009
NM_000435.3(NOTCH3):c.1416G>T (p.Glu472Asp) rs1416152273 0.00006
NM_000435.3(NOTCH3):c.487C>T (p.Arg163Trp) rs367707092 0.00006
NM_000435.3(NOTCH3):c.6619C>T (p.Arg2207Trp) rs753170185 0.00006
NM_000435.3(NOTCH3):c.1567G>A (p.Val523Met) rs564452430 0.00005
NM_000435.3(NOTCH3):c.3575C>T (p.Thr1192Ile) rs150811543 0.00005
NM_000435.3(NOTCH3):c.4333G>T (p.Ala1445Ser) rs377578886 0.00005
NM_000435.3(NOTCH3):c.2149C>T (p.Arg717Cys) rs144163298 0.00004
NM_000435.3(NOTCH3):c.6926C>G (p.Pro2309Arg) rs548018044 0.00004
NM_000435.3(NOTCH3):c.2254G>A (p.Asp752Asn) rs377521258 0.00002
NM_000435.3(NOTCH3):c.5396G>A (p.Cys1799Tyr) rs1336048311 0.00002
NM_000435.3(NOTCH3):c.5618G>A (p.Arg1873His) rs780169747 0.00002
NM_000435.3(NOTCH3):c.815C>T (p.Thr272Met) rs749561286 0.00002
NM_000435.3(NOTCH3):c.1232C>T (p.Thr411Met) rs1555729077 0.00001
NM_000435.3(NOTCH3):c.1463T>G (p.Val488Gly) rs760245739 0.00001
NM_000435.3(NOTCH3):c.2137C>T (p.Pro713Ser) rs147855256 0.00001
NM_000435.3(NOTCH3):c.214G>A (p.Val72Met) rs2046938247 0.00001
NM_000435.3(NOTCH3):c.2209G>A (p.Ala737Thr) rs754815179 0.00001
NM_000435.3(NOTCH3):c.3364G>A (p.Asp1122Asn) rs140147764 0.00001
NM_000435.3(NOTCH3):c.3403G>T (p.Gly1135Cys) rs867379493 0.00001
NM_000435.3(NOTCH3):c.3463G>T (p.Val1155Leu) rs762281787 0.00001
NM_000435.3(NOTCH3):c.1075C>G (p.Pro359Ala) rs2046910565
NM_000435.3(NOTCH3):c.124C>T (p.Pro42Ser)
NM_000435.3(NOTCH3):c.1270A>G (p.Thr424Ala)
NM_000435.3(NOTCH3):c.1537A>C (p.Ser513Arg)
NM_000435.3(NOTCH3):c.2074T>C (p.Cys692Arg)
NM_000435.3(NOTCH3):c.2141G>A (p.Gly714Asp)
NM_000435.3(NOTCH3):c.2215G>A (p.Glu739Lys)
NM_000435.3(NOTCH3):c.2354G>T (p.Arg785Leu)
NM_000435.3(NOTCH3):c.2495G>A (p.Ser832Asn)
NM_000435.3(NOTCH3):c.2530C>T (p.Pro844Ser)
NM_000435.3(NOTCH3):c.2542C>G (p.Gln848Glu)
NM_000435.3(NOTCH3):c.2684C>T (p.Pro895Leu)
NM_000435.3(NOTCH3):c.2699C>T (p.Thr900Ile)
NM_000435.3(NOTCH3):c.2723T>A (p.Phe908Tyr)
NM_000435.3(NOTCH3):c.2773C>G (p.Leu925Val) rs184033385
NM_000435.3(NOTCH3):c.2938G>T (p.Ala980Ser)
NM_000435.3(NOTCH3):c.3353A>T (p.Asn1118Ile)
NM_000435.3(NOTCH3):c.3476T>C (p.Ile1159Thr)
NM_000435.3(NOTCH3):c.3509T>G (p.Leu1170Arg)
NM_000435.3(NOTCH3):c.3542C>T (p.Thr1181Ile) rs1216306549
NM_000435.3(NOTCH3):c.3838C>A (p.Pro1280Thr) rs958354298
NM_000435.3(NOTCH3):c.3865G>A (p.Val1289Met)
NM_000435.3(NOTCH3):c.3884A>C (p.Glu1295Ala)
NM_000435.3(NOTCH3):c.4534G>T (p.Val1512Leu)
NM_000435.3(NOTCH3):c.4582A>G (p.Ser1528Gly)
NM_000435.3(NOTCH3):c.4588G>A (p.Asp1530Asn)
NM_000435.3(NOTCH3):c.4816A>G (p.Ser1606Gly)
NM_000435.3(NOTCH3):c.4913A>G (p.Glu1638Gly)
NM_000435.3(NOTCH3):c.4987A>G (p.Met1663Val)
NM_000435.3(NOTCH3):c.5615G>A (p.Gly1872Asp)
NM_000435.3(NOTCH3):c.5801C>T (p.Ala1934Val)
NM_000435.3(NOTCH3):c.5866T>G (p.Leu1956Val)
NM_000435.3(NOTCH3):c.58C>T (p.Pro20Ser)
NM_000435.3(NOTCH3):c.5901G>A (p.Met1967Ile) rs373866355
NM_000435.3(NOTCH3):c.6051C>G (p.His2017Gln)
NM_000435.3(NOTCH3):c.6148C>T (p.Leu2050Phe)
NM_000435.3(NOTCH3):c.61C>T (p.Pro21Ser)
NM_000435.3(NOTCH3):c.6337G>A (p.Gly2113Arg)
NM_000435.3(NOTCH3):c.6409C>G (p.Leu2137Val) rs2046639059
NM_000435.3(NOTCH3):c.6433C>T (p.Arg2145Trp)
NM_000435.3(NOTCH3):c.6572C>A (p.Pro2191Gln)
NM_000435.3(NOTCH3):c.6574G>C (p.Gly2192Arg)
NM_000435.3(NOTCH3):c.6599C>G (p.Thr2200Ser)
NM_000435.3(NOTCH3):c.6643C>G (p.Pro2215Ala)
NM_000435.3(NOTCH3):c.6655G>A (p.Glu2219Lys)
NM_000435.3(NOTCH3):c.6709C>G (p.Arg2237Gly) rs749189648
NM_000435.3(NOTCH3):c.6755C>T (p.Pro2252Leu) rs201073642
NM_000435.3(NOTCH3):c.6766G>T (p.Ala2256Ser)
NM_000435.3(NOTCH3):c.6833G>A (p.Gly2278Glu)

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