ClinVar Miner

List of variants in gene NOTCH1 reported as uncertain significance by GeneDx

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Gene type:
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Total variants: 69
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HGVS dbSNP
NM_017617.3(NOTCH1):c.2558_2560delTCT (p.Phe853del) rs779164170
NM_017617.5(NOTCH1):c.1205C>T (p.Ser402Leu) rs1037236860
NM_017617.5(NOTCH1):c.128C>T (p.Thr43Met) rs371103280
NM_017617.5(NOTCH1):c.1543G>C (p.Glu515Gln) rs749085650
NM_017617.5(NOTCH1):c.1553C>T (p.Thr518Met) rs377535397
NM_017617.5(NOTCH1):c.1664C>T (p.Thr555Met) rs746796894
NM_017617.5(NOTCH1):c.1711G>A (p.Asp571Asn) rs373125283
NM_017617.5(NOTCH1):c.1753G>A (p.Ala585Thr) rs775217381
NM_017617.5(NOTCH1):c.1870G>A (p.Ala624Thr) rs372771179
NM_017617.5(NOTCH1):c.1981G>A (p.Gly661Ser) rs201077220
NM_017617.5(NOTCH1):c.2083G>T (p.Asp695Tyr) rs767162403
NM_017617.5(NOTCH1):c.2206G>A (p.Gly736Arg) rs201662530
NM_017617.5(NOTCH1):c.235C>T (p.Arg79Cys) rs761439288
NM_017617.5(NOTCH1):c.2443T>A (p.Cys815Ser) rs1176627299
NM_017617.5(NOTCH1):c.244G>A (p.Val82Met) rs571831870
NM_017617.5(NOTCH1):c.2500G>T (p.Ala834Ser) rs1554728847
NM_017617.5(NOTCH1):c.2501C>G (p.Ala834Gly) rs202144877
NM_017617.5(NOTCH1):c.2521G>A (p.Gly841Ser) rs369259434
NM_017617.5(NOTCH1):c.2636G>A (p.Arg879Gln) rs368011392
NM_017617.5(NOTCH1):c.2734C>T (p.Arg912Trp) rs201620358
NM_017617.5(NOTCH1):c.2812C>T (p.Arg938Trp) rs554142958
NM_017617.5(NOTCH1):c.3262G>C (p.Gly1088Arg) rs531420022
NM_017617.5(NOTCH1):c.328C>T (p.Pro110Ser) rs1064796976
NM_017617.5(NOTCH1):c.3341G>A (p.Arg1114His) rs777684045
NM_017617.5(NOTCH1):c.335G>A (p.Arg112His) rs768625801
NM_017617.5(NOTCH1):c.3835C>T (p.Arg1279Cys) rs182330532
NM_017617.5(NOTCH1):c.383G>A (p.Arg128His) rs754086897
NM_017617.5(NOTCH1):c.3853G>A (p.Val1285Met) rs756972680
NM_017617.5(NOTCH1):c.3869A>G (p.Asp1290Gly) rs1347832105
NM_017617.5(NOTCH1):c.4010C>G (p.Pro1337Arg) rs1043832212
NM_017617.5(NOTCH1):c.4014G>A (p.Ala1338=) rs377217445
NM_017617.5(NOTCH1):c.4016G>C (p.Gly1339Ala) rs1131692021
NM_017617.5(NOTCH1):c.4031C>T (p.Thr1344Met) rs201215245
NM_017617.5(NOTCH1):c.4049G>T (p.Arg1350Leu) rs150343794
NM_017617.5(NOTCH1):c.4066C>T (p.Arg1356Cys) rs587778567
NM_017617.5(NOTCH1):c.4335C>G (p.Ile1445Met) rs373960609
NM_017617.5(NOTCH1):c.4426G>A (p.Gly1476Ser) rs776133530
NM_017617.5(NOTCH1):c.4571C>T (p.Ala1524Val) rs774374213
NM_017617.5(NOTCH1):c.4718C>T (p.Thr1573Met) rs573864607
NM_017617.5(NOTCH1):c.4879C>T (p.Arg1627Cys) rs1203442527
NM_017617.5(NOTCH1):c.4898G>A (p.Arg1633His) rs375018022
NM_017617.5(NOTCH1):c.5219C>T (p.Ala1740Val) rs777962754
NM_017617.5(NOTCH1):c.5224G>T (p.Ala1742Ser) rs760669267
NM_017617.5(NOTCH1):c.5347C>T (p.Arg1783Trp) rs528703507
NM_017617.5(NOTCH1):c.5452C>G (p.Leu1818Val) rs1064796983
NM_017617.5(NOTCH1):c.5492T>C (p.Leu1831Pro) rs1085307869
NM_017617.5(NOTCH1):c.5776C>T (p.Arg1926Cys) rs199652954
NM_017617.5(NOTCH1):c.5981A>G (p.Asp1994Gly) rs1454512890
NM_017617.5(NOTCH1):c.6028A>T (p.Met2010Leu) rs1085307554
NM_017617.5(NOTCH1):c.6131C>T (p.Ala2044Val) rs1085307562
NM_017617.5(NOTCH1):c.6283C>T (p.Arg2095Cys) rs780873661
NM_017617.5(NOTCH1):c.62G>A (p.Gly21Asp) rs1554733407
NM_017617.5(NOTCH1):c.6358C>T (p.Arg2120Cys) rs375969725
NM_017617.5(NOTCH1):c.6428A>G (p.Asn2143Ser) rs1085307778
NM_017617.5(NOTCH1):c.6481C>T (p.Pro2161Ser) rs201518848
NM_017617.5(NOTCH1):c.650G>A (p.Arg217Gln) rs1392605424
NM_017617.5(NOTCH1):c.6521A>G (p.Lys2174Arg) rs761602495
NM_017617.5(NOTCH1):c.6583G>A (p.Gly2195Ser) rs376422513
NM_017617.5(NOTCH1):c.6733G>A (p.Gly2245Arg) rs201613894
NM_017617.5(NOTCH1):c.6814C>T (p.Arg2272Cys) rs752505638
NM_017617.5(NOTCH1):c.6815G>A (p.Arg2272His) rs972658026
NM_017617.5(NOTCH1):c.6836C>T (p.Ala2279Val) rs200370953
NM_017617.5(NOTCH1):c.6867C>A (p.Ser2289Arg) rs1131691923
NM_017617.5(NOTCH1):c.6895G>A (p.Gly2299Ser) rs1020747496
NM_017617.5(NOTCH1):c.7175T>C (p.Met2392Thr) rs1036612594
NM_017617.5(NOTCH1):c.7210C>T (p.Gln2404Ter) rs1554826400
NM_017617.5(NOTCH1):c.7316G>C (p.Ser2439Thr) rs1131691402
NM_017617.5(NOTCH1):c.7397C>T (p.Thr2466Met) rs369167555
NM_017617.5(NOTCH1):c.775G>A (p.Asp259Asn) rs763187824

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