ClinVar Miner

List of variants in gene NOTCH3 reported as uncertain significance by Athena Diagnostics Inc

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Gene type:
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Total variants: 26
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HGVS dbSNP
NM_000435.3(NOTCH3):c.1102A>G (p.Thr368Ala) rs1555729115
NM_000435.3(NOTCH3):c.120C>G (p.Ala40=) rs146904189
NM_000435.3(NOTCH3):c.133G>C (p.Asp45His) rs142031490
NM_000435.3(NOTCH3):c.1342G>C (p.Asp448His) rs1555729048
NM_000435.3(NOTCH3):c.154G>A (p.Gly52Arg) rs148166997
NM_000435.3(NOTCH3):c.1729A>G (p.Thr577Ala) rs368181126
NM_000435.3(NOTCH3):c.1774C>A (p.Arg592Ser) rs764148985
NM_000435.3(NOTCH3):c.1801G>T (p.Val601Leu) rs904239617
NM_000435.3(NOTCH3):c.2432T>C (p.Val811Ala) rs373367879
NM_000435.3(NOTCH3):c.2437G>A (p.Glu813Lys) rs375873637
NM_000435.3(NOTCH3):c.2588C>T (p.Ser863Leu) rs758913191
NM_000435.3(NOTCH3):c.2645C>G (p.Pro882Arg) rs760472019
NM_000435.3(NOTCH3):c.2657G>A (p.Arg886His) rs1275201697
NM_000435.3(NOTCH3):c.2732C>A (p.Thr911Asn) rs756288782
NM_000435.3(NOTCH3):c.329G>A (p.Arg110His) rs769955930
NM_000435.3(NOTCH3):c.3524G>C (p.Arg1175Pro) rs752282553
NM_000435.3(NOTCH3):c.3691C>T (p.Arg1231Cys) rs201680145
NM_000435.3(NOTCH3):c.3837+10G>T rs1555727565
NM_000435.3(NOTCH3):c.3961G>A (p.Gly1321Arg) rs1030392985
NM_000435.3(NOTCH3):c.3983C>T (p.Pro1328Leu) rs1239435396
NM_000435.3(NOTCH3):c.4004_4006dup (p.Ser1335dup) rs1555727412
NM_000435.3(NOTCH3):c.5315A>C (p.Gln1772Pro) rs1555725846
NM_000435.3(NOTCH3):c.545G>A (p.Arg182His) rs767175703
NM_000435.3(NOTCH3):c.5569C>T (p.Arg1857Trp) rs752169336
NM_000435.3(NOTCH3):c.6802G>A (p.Glu2268Lys) rs996150018
NM_000435.3(NOTCH3):c.741T>G (p.Asn247Lys) rs1555729409

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