ClinVar Miner

List of variants in gene NOTCH3 reported as uncertain significance for not specified

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Gene type:
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Total variants: 42
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HGVS dbSNP gnomAD frequency
NM_000435.3(NOTCH3):c.6632A>G (p.Tyr2211Cys) rs369813654 0.00031
NM_000435.3(NOTCH3):c.2738C>T (p.Pro913Leu) rs370422650 0.00019
NM_000435.3(NOTCH3):c.6061G>A (p.Val2021Met) rs199620476 0.00013
NM_000435.3(NOTCH3):c.3664T>G (p.Cys1222Gly) rs199638166 0.00011
NM_000435.3(NOTCH3):c.2732C>A (p.Thr911Asn) rs756288782 0.00006
NM_000435.3(NOTCH3):c.5467G>A (p.Asp1823Asn) rs763602970 0.00006
NM_000435.3(NOTCH3):c.5569C>T (p.Arg1857Trp) rs752169336 0.00006
NM_000435.3(NOTCH3):c.6802G>A (p.Glu2268Lys) rs996150018 0.00006
NM_000435.3(NOTCH3):c.1729A>G (p.Thr577Ala) rs368181126 0.00004
NM_000435.3(NOTCH3):c.2978C>T (p.Thr993Met) rs371278091 0.00003
NM_000435.3(NOTCH3):c.3352A>T (p.Asn1118Tyr) rs376950447 0.00003
NM_000435.3(NOTCH3):c.3961G>A (p.Gly1321Arg) rs1030392985 0.00003
NM_000435.3(NOTCH3):c.2432T>C (p.Val811Ala) rs373367879 0.00002
NM_000435.3(NOTCH3):c.545G>A (p.Arg182His) rs767175703 0.00002
NM_000435.3(NOTCH3):c.6266C>T (p.Pro2089Leu) rs749288986 0.00002
NM_000435.3(NOTCH3):c.133G>C (p.Asp45His) rs142031490 0.00001
NM_000435.3(NOTCH3):c.154G>A (p.Gly52Arg) rs148166997 0.00001
NM_000435.3(NOTCH3):c.1801G>T (p.Val601Leu) rs904239617 0.00001
NM_000435.3(NOTCH3):c.2329C>T (p.Pro777Ser) rs886054259 0.00001
NM_000435.3(NOTCH3):c.2645C>G (p.Pro882Arg) rs760472019 0.00001
NM_000435.3(NOTCH3):c.329G>A (p.Arg110His) rs769955930 0.00001
NM_000435.3(NOTCH3):c.3725G>A (p.Arg1242His) rs146149484 0.00001
NM_000435.3(NOTCH3):c.6242G>T (p.Gly2081Val) rs141231747 0.00001
NM_000435.3(NOTCH3):c.1099G>A (p.Asp367Asn)
NM_000435.3(NOTCH3):c.1102A>G (p.Thr368Ala) rs1555729115
NM_000435.3(NOTCH3):c.118+19G>T
NM_000435.3(NOTCH3):c.1342G>C (p.Asp448His) rs1555729048
NM_000435.3(NOTCH3):c.1759C>T (p.Arg587Cys) rs754554486
NM_000435.3(NOTCH3):c.1788del (p.Lys596fs) rs1303316005
NM_000435.3(NOTCH3):c.2657G>A (p.Arg886His) rs1275201697
NM_000435.3(NOTCH3):c.2741_2742delinsAG (p.Pro914Gln) rs2145423971
NM_000435.3(NOTCH3):c.2793-4C>G
NM_000435.3(NOTCH3):c.2926G>A (p.Val976Ile) rs771899820
NM_000435.3(NOTCH3):c.3309G>A (p.Met1103Ile) rs1237713721
NM_000435.3(NOTCH3):c.3524G>C (p.Arg1175Pro) rs752282553
NM_000435.3(NOTCH3):c.352T>G (p.Ser118Ala)
NM_000435.3(NOTCH3):c.3616A>G (p.Ile1206Val)
NM_000435.3(NOTCH3):c.3884A>G (p.Glu1295Gly)
NM_000435.3(NOTCH3):c.3983C>T (p.Pro1328Leu) rs1239435396
NM_000435.3(NOTCH3):c.4585_4586delinsAA (p.Ala1529Asn) rs2046767691
NM_000435.3(NOTCH3):c.5315A>C (p.Gln1772Pro) rs1555725846
NM_000435.3(NOTCH3):c.741T>G (p.Asn247Lys) rs1555729409

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