ClinVar Miner

List of variants in gene NOTCH1 reported as uncertain significance for NOTCH1-related disorder

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Gene type:
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Total variants: 73
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HGVS dbSNP gnomAD frequency
NM_017617.5(NOTCH1):c.5189C>T (p.Pro1730Leu) rs375897519 0.00024
NM_017617.5(NOTCH1):c.454G>A (p.Gly152Ser) rs750242131 0.00015
NM_017617.5(NOTCH1):c.2206G>A (p.Gly736Arg) rs201662530 0.00013
NM_017617.5(NOTCH1):c.5414T>C (p.Leu1805Pro) rs201779159 0.00010
NM_017617.5(NOTCH1):c.7397C>T (p.Thr2466Met) rs369167555 0.00007
NM_017617.5(NOTCH1):c.2108G>A (p.Arg703His) rs561126575 0.00006
NM_017617.5(NOTCH1):c.2620G>A (p.Val874Ile) rs776698364 0.00006
NM_017617.5(NOTCH1):c.4238G>A (p.Arg1413His) rs371068504 0.00005
NM_017617.5(NOTCH1):c.4981C>T (p.Arg1661Trp) rs998433493 0.00005
NM_017617.5(NOTCH1):c.6298A>G (p.Ile2100Val) rs543533126 0.00005
NM_017617.5(NOTCH1):c.2576C>T (p.Thr859Met) rs199505287 0.00004
NM_017617.5(NOTCH1):c.3980A>G (p.Asn1327Ser) rs751874720 0.00004
NM_017617.5(NOTCH1):c.826G>A (p.Val276Met) rs369721921 0.00004
NM_017617.5(NOTCH1):c.2665G>A (p.Gly889Ser) rs557590721 0.00003
NM_017617.5(NOTCH1):c.3341G>A (p.Arg1114His) rs777684045 0.00003
NM_017617.5(NOTCH1):c.4078G>A (p.Gly1360Ser) rs769493139 0.00003
NM_017617.5(NOTCH1):c.6377G>C (p.Gly2126Ala) rs776496915 0.00003
NM_017617.5(NOTCH1):c.6770C>T (p.Ala2257Val) rs377112509 0.00003
NM_017617.5(NOTCH1):c.2903C>T (p.Thr968Met) rs781201059 0.00002
NM_017617.5(NOTCH1):c.3679C>T (p.Pro1227Ser) rs777652834 0.00002
NM_017617.5(NOTCH1):c.5285G>A (p.Arg1762Gln) rs942439472 0.00002
NM_017617.5(NOTCH1):c.7463A>G (p.His2488Arg) rs1208693439 0.00002
NM_017617.5(NOTCH1):c.775G>A (p.Asp259Asn) rs763187824 0.00002
NM_017617.5(NOTCH1):c.1384C>G (p.Gln462Glu) rs747502723 0.00001
NM_017617.5(NOTCH1):c.1648T>G (p.Tyr550Asp) rs1843262478 0.00001
NM_017617.5(NOTCH1):c.2501C>T (p.Ala834Val) rs202144877 0.00001
NM_017617.5(NOTCH1):c.2594C>T (p.Thr865Ile) rs1342719071 0.00001
NM_017617.5(NOTCH1):c.2644G>A (p.Ala882Thr) rs767886377 0.00001
NM_017617.5(NOTCH1):c.3061G>A (p.Asp1021Asn) rs760908627 0.00001
NM_017617.5(NOTCH1):c.3197C>T (p.Ser1066Leu) rs771739312 0.00001
NM_017617.5(NOTCH1):c.3556G>A (p.Glu1186Lys) rs1013688544 0.00001
NM_017617.5(NOTCH1):c.365T>G (p.Leu122Arg) rs984769025 0.00001
NM_017617.5(NOTCH1):c.4451A>G (p.Asn1484Ser) rs759828439 0.00001
NM_017617.5(NOTCH1):c.4655C>T (p.Ala1552Val) rs748862853 0.00001
NM_017617.5(NOTCH1):c.4881C>T (p.Arg1627=) rs372753656 0.00001
NM_017617.5(NOTCH1):c.5452C>G (p.Leu1818Val) rs1064796983 0.00001
NM_017617.5(NOTCH1):c.7291C>T (p.Arg2431Trp) rs758410389 0.00001
NM_017617.5(NOTCH1):c.7417G>A (p.Val2473Ile) rs1358523874 0.00001
NM_017617.5(NOTCH1):c.7457C>T (p.Ser2486Leu) rs1183279486 0.00001
NM_017617.5(NOTCH1):c.7495A>C (p.Ser2499Arg) rs1842911325 0.00001
NM_017617.5(NOTCH1):c.805G>A (p.Gly269Arg) rs768524076 0.00001
NM_017617.5(NOTCH1):c.82G>A (p.Gly28Ser) rs1388609508 0.00001
NM_017617.5(NOTCH1):c.1063G>T (p.Ala355Ser) rs2540461962
NM_017617.5(NOTCH1):c.1193G>A (p.Cys398Tyr)
NM_017617.5(NOTCH1):c.1226G>A (p.Cys409Tyr) rs2133369690
NM_017617.5(NOTCH1):c.1289_1291dup (p.Ile430_Asn431insIle)
NM_017617.5(NOTCH1):c.1506T>A (p.Asn502Lys) rs2540459645
NM_017617.5(NOTCH1):c.1556-8G>A rs776434236
NM_017617.5(NOTCH1):c.2330G>A (p.Cys777Tyr) rs2540452830
NM_017617.5(NOTCH1):c.2387C>T (p.Ala796Val) rs753036935
NM_017617.5(NOTCH1):c.2491G>A (p.Ala831Thr) rs1221479422
NM_017617.5(NOTCH1):c.2558_2560del (p.Phe853del) rs779164170
NM_017617.5(NOTCH1):c.3109C>G (p.Gln1037Glu) rs878855025
NM_017617.5(NOTCH1):c.3424T>C (p.Cys1142Arg) rs2540442355
NM_017617.5(NOTCH1):c.3507C>T (p.Cys1169=) rs1236247464
NM_017617.5(NOTCH1):c.3997A>G (p.Ile1333Val) rs772084075
NM_017617.5(NOTCH1):c.4249C>T (p.Pro1417Ser) rs1481418937
NM_017617.5(NOTCH1):c.4444A>G (p.Asn1482Asp) rs1843065776
NM_017617.5(NOTCH1):c.4772A>G (p.His1591Arg)
NM_017617.5(NOTCH1):c.5016C>T (p.Arg1672=) rs1251609154
NM_017617.5(NOTCH1):c.5385-8C>G rs758203250
NM_017617.5(NOTCH1):c.5506G>C (p.Asp1836His)
NM_017617.5(NOTCH1):c.5914G>C (p.Asp1972His) rs1414380652
NM_017617.5(NOTCH1):c.619C>T (p.Arg207Cys) rs748300035
NM_017617.5(NOTCH1):c.6219C>G (p.Ser2073Arg) rs1162682313
NM_017617.5(NOTCH1):c.6538A>G (p.Arg2180Gly) rs2540422242
NM_017617.5(NOTCH1):c.677C>T (p.Pro226Leu) rs1843395886
NM_017617.5(NOTCH1):c.7042G>A (p.Gly2348Ser) rs2540421222
NM_017617.5(NOTCH1):c.7232C>G (p.Pro2411Arg) rs1169641185
NM_017617.5(NOTCH1):c.728G>T (p.Cys243Phe) rs2133377241
NM_017617.5(NOTCH1):c.7376A>G (p.Gln2459Arg)
NM_017617.5(NOTCH1):c.7485C>A (p.Asp2495Glu) rs2133314562
NM_017617.5(NOTCH1):c.817G>A (p.Val273Met)

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