ClinVar Miner

List of variants in gene NOTCH2 studied for abdominal and pelvic region disorder

Included ClinVar conditions (891):
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Gene type:
ClinVar version:
Total variants: 69
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HGVS dbSNP
NM_024408.3(NOTCH2):c.1117T>C (p.Cys373Arg) rs312262793
NM_024408.3(NOTCH2):c.1147C>T (p.Pro383Ser) rs312262795
NM_024408.3(NOTCH2):c.1180C>T (p.Pro394Ser) rs312262794
NM_024408.3(NOTCH2):c.1248G>A (p.Val416=) rs374135765
NM_024408.3(NOTCH2):c.1280G>A (p.Cys427Tyr)
NM_024408.3(NOTCH2):c.1315G>A (p.Ala439Thr) rs199565938
NM_024408.3(NOTCH2):c.1331G>A (p.Cys444Tyr) rs111033632
NM_024408.3(NOTCH2):c.1438T>C (p.Cys480Arg) rs312262799
NM_024408.3(NOTCH2):c.1567+8C>T rs372367275
NM_024408.3(NOTCH2):c.1804G>A (p.Ala602Thr) rs140311741
NM_024408.3(NOTCH2):c.1957C>A (p.Pro653Thr) rs1553198769
NM_024408.3(NOTCH2):c.2566_2567delAG (p.Ser856Leufs) rs312262800
NM_024408.3(NOTCH2):c.3034T>C (p.Leu1012=) rs77194332
NM_024408.3(NOTCH2):c.3117G>A (p.Thr1039=) rs36084504
NM_024408.3(NOTCH2):c.3205C>A (p.Arg1069=) rs61752485
NM_024408.3(NOTCH2):c.3206G>A (p.Arg1069Gln) rs146014987
NM_024408.3(NOTCH2):c.3234C>T (p.Cys1078=) rs7543643
NM_024408.3(NOTCH2):c.3246dup (p.Ala1083Serfs) rs1553195973
NM_024408.3(NOTCH2):c.3441G>A (p.Glu1147=) rs371875533
NM_024408.3(NOTCH2):c.3479A>G (p.His1160Arg) rs142876168
NM_024408.3(NOTCH2):c.3519C>T (p.Cys1173=) rs115325955
NM_024408.3(NOTCH2):c.3625T>G (p.Phe1209Val) rs147223770
NM_024408.3(NOTCH2):c.3652C>T (p.Arg1218Trp) rs587641573
NM_024408.3(NOTCH2):c.3779G>A (p.Arg1260His) rs75423398
NM_024408.3(NOTCH2):c.3980A>G (p.Asp1327Gly) rs61752484
NM_024408.3(NOTCH2):c.4014C>T (p.Ser1338=) rs17024525
NM_024408.3(NOTCH2):c.4238T>A (p.Leu1413His) rs41313282
NM_024408.3(NOTCH2):c.4305G>A (p.Arg1435=) rs6692009
NM_024408.3(NOTCH2):c.4311C>T (p.Gly1437=) rs34561092
NM_024408.3(NOTCH2):c.4639C>G (p.Leu1547Val) rs1241715192
NM_024408.3(NOTCH2):c.4740G>A (p.Lys1580=) rs367699419
NM_024408.3(NOTCH2):c.4897G>A (p.Val1633Ile) rs116321057
NM_024408.3(NOTCH2):c.4999G>A (p.Val1667Ile) rs17024517
NM_024408.3(NOTCH2):c.5065A>T (p.Ile1689Phe) rs60854092
NM_024408.3(NOTCH2):c.5218C>A (p.Leu1740Ile) rs747138507
NM_024408.3(NOTCH2):c.5345delA (p.Asp1782Alafs) rs1553193977
NM_024408.3(NOTCH2):c.5857C>T (p.Arg1953Cys) rs312262796
NM_024408.3(NOTCH2):c.5858G>A (p.Arg1953His) rs312262797
NM_024408.3(NOTCH2):c.5930-1G>A rs312262798
NM_024408.3(NOTCH2):c.5945A>G (p.His1982Arg) rs1553193747
NM_024408.3(NOTCH2):c.6007C>T (p.Arg2003Ter) rs312262801
NM_024408.3(NOTCH2):c.6094C>A (p.His2032Asn) rs143236410
NM_024408.3(NOTCH2):c.6118G>A (p.Asp2040Asn) rs748876258
NM_024408.3(NOTCH2):c.6421C>T (p.Leu2141=) rs3795666
NM_024408.3(NOTCH2):c.6449_6450delCT (p.Pro2150Argfs) rs1553193574
NM_024408.3(NOTCH2):c.6503delC (p.Pro2168Glnfs)
NM_024408.3(NOTCH2):c.6622C>T (p.Gln2208Ter) rs387906746
NM_024408.3(NOTCH2):c.6853C>T (p.Gln2285Ter) rs1553193507
NM_024408.3(NOTCH2):c.6893G>A (p.Arg2298Gln) rs140832430
NM_024408.3(NOTCH2):c.6895G>T (p.Glu2299Ter) rs387906748
NM_024408.3(NOTCH2):c.6909dupC (p.Ile2304Hisfs) rs771237928
NM_024408.3(NOTCH2):c.6916A>T (p.Thr2306Ser)
NM_024408.3(NOTCH2):c.6949C>T (p.Gln2317Ter) rs387906747
NM_024408.3(NOTCH2):c.6956C>T (p.Ala2319Val) rs373527990
NM_024408.3(NOTCH2):c.6997G>C (p.Ala2333Pro) rs143506822
NM_024408.3(NOTCH2):c.7075C>G (p.Pro2359Ala) rs75831573
NM_024408.3(NOTCH2):c.7078C>T (p.Gln2360Ter) rs1553193485
NM_024408.3(NOTCH2):c.7165C>T (p.Gln2389Ter) rs387906749
NM_024408.3(NOTCH2):c.7198C>T (p.Arg2400Ter) rs1325403451
NM_024408.3(NOTCH2):c.7223T>A (p.Leu2408His) rs35586704
NM_024408.3(NOTCH2):c.939C>T (p.Gly313=) rs7533978
NM_024408.3(NOTCH2):c.956A>G (p.Asn319Ser) rs144936899
NM_024408.3:c.6460delC
NM_024408.3:c.6909delC
NM_024408.4(NOTCH2):c.5431C>T (p.Gln1811Ter)
NM_024408.4(NOTCH2):c.6272del (p.Phe2091Serfs)
NM_024408.4(NOTCH2):c.6919_6920del (p.Phe2307Profs)
NM_024408.4(NOTCH2):c.7119T>G (p.Tyr2373Ter)
NOTCH2, 1-BP DEL, 6460T

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