ClinVar Miner

List of variants in gene NOTCH2 reported by Invitae

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Gene type:
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Total variants: 41
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HGVS dbSNP
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.1567+8C>T rs372367275
NM_024408.3(NOTCH2):c.1804G>A (p.Ala602Thr) rs140311741
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.3234C>T (p.Cys1078=) rs7543643
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.5945A>G (p.His1982Arg) rs1553193747
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.6909dupC (p.Ile2304Hisfs) rs771237928
NM_024408.3(NOTCH2):c.6916A>T (p.Thr2306Ser)
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.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

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