ClinVar Miner

List of variants in gene NOTCH2 reported as likely benign by PreventionGenetics, part of Exact Sciences

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 93
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HGVS dbSNP gnomAD frequency
NM_024408.4(NOTCH2):c.7223T>A (p.Leu2408His) rs35586704 0.00228
NM_024408.4(NOTCH2):c.4122C>T (p.Cys1374=) rs74117504 0.00143
NM_024408.4(NOTCH2):c.6223G>A (p.Val2075Met) rs150516342 0.00141
NM_024408.4(NOTCH2):c.6094C>A (p.His2032Asn) rs143236410 0.00131
NM_024408.4(NOTCH2):c.4897G>A (p.Val1633Ile) rs116321057 0.00085
NM_024408.4(NOTCH2):c.5074A>G (p.Ile1692Val) rs143134864 0.00074
NM_024408.4(NOTCH2):c.2830G>T (p.Asp944Tyr) rs151130105 0.00067
NM_024408.4(NOTCH2):c.6766C>T (p.Arg2256Cys) rs147522485 0.00056
NM_024408.4(NOTCH2):c.1541A>G (p.Asn514Ser) rs34308573 0.00052
NM_024408.4(NOTCH2):c.1567+8C>T rs372367275 0.00052
NM_024408.4(NOTCH2):c.7140G>C (p.Val2380=) rs150785478 0.00051
NM_024408.4(NOTCH2):c.6363G>C (p.Lys2121Asn) rs144047610 0.00050
NM_024408.4(NOTCH2):c.3655+54A>G rs587664838 0.00047
NM_024408.4(NOTCH2):c.1804G>A (p.Ala602Thr) rs140311741 0.00039
NM_024408.4(NOTCH2):c.4973C>T (p.Thr1658Ile) rs142462128 0.00034
NM_024408.4(NOTCH2):c.5161G>A (p.Ala1721Thr) rs115013051 0.00022
NM_024408.4(NOTCH2):c.3206G>A (p.Arg1069Gln) rs146014987 0.00017
NM_024408.4(NOTCH2):c.4929G>A (p.Thr1643=) rs587697719 0.00013
NM_024408.4(NOTCH2):c.6957G>A (p.Ala2319=) rs369891453 0.00011
NM_024408.4(NOTCH2):c.2196A>C (p.Gly732=) rs782101275 0.00010
NM_024408.4(NOTCH2):c.6477G>A (p.Thr2159=) rs145566650 0.00009
NM_024408.4(NOTCH2):c.7038C>G (p.Ala2346=) rs148846611 0.00009
NM_024408.4(NOTCH2):c.1803C>T (p.Gly601=) rs377566312 0.00006
NM_024408.4(NOTCH2):c.3702T>C (p.His1234=) rs376503331 0.00006
NM_024408.4(NOTCH2):c.4312G>A (p.Val1438Ile) rs745861610 0.00006
NM_024408.4(NOTCH2):c.7413G>A (p.Ala2471=) rs771638958 0.00006
NM_024408.4(NOTCH2):c.956A>G (p.Asn319Ser) rs144936899 0.00006
NM_024408.4(NOTCH2):c.4740G>A (p.Lys1580=) rs367699419 0.00004
NM_024408.4(NOTCH2):c.5217T>C (p.Asn1739=) rs768669808 0.00004
NM_024408.4(NOTCH2):c.6711T>C (p.Ser2237=) rs369394477 0.00004
NM_024408.4(NOTCH2):c.7263T>A (p.Ser2421=) rs369912969 0.00004
NM_024408.4(NOTCH2):c.2388T>A (p.Ile796=) rs138943874 0.00003
NM_024408.4(NOTCH2):c.3109G>A (p.Glu1037Lys) rs782463588 0.00003
NM_024408.4(NOTCH2):c.4005G>A (p.Pro1335=) rs118188023 0.00003
NM_024408.4(NOTCH2):c.6028-4G>A rs372465730 0.00003
NM_024408.4(NOTCH2):c.6307T>A (p.Ser2103Thr) rs779311707 0.00003
NM_024408.4(NOTCH2):c.7146G>A (p.Lys2382=) rs775423271 0.00003
NM_024408.4(NOTCH2):c.4002C>G (p.Pro1334=) rs1390174762 0.00002
NM_024408.4(NOTCH2):c.4458G>A (p.Thr1486=) rs61756001 0.00002
NM_024408.4(NOTCH2):c.4998C>T (p.Val1666=) rs765967094 0.00002
NM_024408.4(NOTCH2):c.1032C>T (p.Phe344=) rs782702694 0.00001
NM_024408.4(NOTCH2):c.1791C>T (p.Pro597=) rs781999109 0.00001
NM_024408.4(NOTCH2):c.2295A>G (p.Pro765=) rs139358772 0.00001
NM_024408.4(NOTCH2):c.3246A>G (p.Lys1082=) rs782319639 0.00001
NM_024408.4(NOTCH2):c.3252G>A (p.Glu1084=) rs372751663 0.00001
NM_024408.4(NOTCH2):c.4992G>A (p.Val1664=) rs587748556 0.00001
NM_024408.4(NOTCH2):c.6516C>T (p.Ser2172=) rs587733506 0.00001
NM_024408.4(NOTCH2):c.7199G>A (p.Arg2400Gln) rs587654671 0.00001
NM_024408.4(NOTCH2):c.822T>G (p.Val274=) rs782642000 0.00001
NM_024408.4(NOTCH2):c.*9A>C
NM_024408.4(NOTCH2):c.1308G>A (p.Thr436=)
NM_024408.4(NOTCH2):c.1347A>G (p.Ala449=)
NM_024408.4(NOTCH2):c.1350A>G (p.Gly450=)
NM_024408.4(NOTCH2):c.1453+7G>C rs782513711
NM_024408.4(NOTCH2):c.1681+6A>G
NM_024408.4(NOTCH2):c.1905A>G (p.Pro635=)
NM_024408.4(NOTCH2):c.1923T>C (p.Asn641=)
NM_024408.4(NOTCH2):c.1986C>T (p.Gly662=)
NM_024408.4(NOTCH2):c.2097C>T (p.Asn699=)
NM_024408.4(NOTCH2):c.2219+9C>T
NM_024408.4(NOTCH2):c.2475C>T (p.Tyr825=)
NM_024408.4(NOTCH2):c.2480-7T>C
NM_024408.4(NOTCH2):c.2928G>A (p.Gln976=)
NM_024408.4(NOTCH2):c.3075G>A (p.Glu1025=) rs782566942
NM_024408.4(NOTCH2):c.3144C>T (p.Arg1048=)
NM_024408.4(NOTCH2):c.3195T>C (p.Asn1065=)
NM_024408.4(NOTCH2):c.3264A>G (p.Leu1088=)
NM_024408.4(NOTCH2):c.3297C>T (p.Asp1099=)
NM_024408.4(NOTCH2):c.3507T>C (p.Gly1169=)
NM_024408.4(NOTCH2):c.3654G>A (p.Arg1218=)
NM_024408.4(NOTCH2):c.3655+35G>A
NM_024408.4(NOTCH2):c.3655+35G>T
NM_024408.4(NOTCH2):c.3655+62T>G
NM_024408.4(NOTCH2):c.3789A>C (p.Gly1263=) rs149036937
NM_024408.4(NOTCH2):c.3900C>T (p.His1300=)
NM_024408.4(NOTCH2):c.4197C>G (p.Ser1399=)
NM_024408.4(NOTCH2):c.4355G>A (p.Gly1452Glu)
NM_024408.4(NOTCH2):c.4512-3T>G
NM_024408.4(NOTCH2):c.4596G>A (p.Leu1532=)
NM_024408.4(NOTCH2):c.4959C>T (p.His1653=)
NM_024408.4(NOTCH2):c.5148T>C (p.Thr1716=)
NM_024408.4(NOTCH2):c.5401A>G (p.Arg1801Gly)
NM_024408.4(NOTCH2):c.5484C>G (p.Gly1828=)
NM_024408.4(NOTCH2):c.5619A>C (p.Thr1873=)
NM_024408.4(NOTCH2):c.5781+10A>C rs369586235
NM_024408.4(NOTCH2):c.6156T>C (p.Asp2052=)
NM_024408.4(NOTCH2):c.6273C>T (p.Phe2091=)
NM_024408.4(NOTCH2):c.6513A>G (p.Thr2171=)
NM_024408.4(NOTCH2):c.6756T>C (p.Asp2252=)
NM_024408.4(NOTCH2):c.7338G>T (p.Gly2446=)
NM_024408.4(NOTCH2):c.874+4T>C
NM_024408.4(NOTCH2):c.909G>A (p.Leu303=) rs781969024
NM_024408.4(NOTCH2):c.918C>T (p.Pro306=)

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