ClinVar Miner

List of variants in gene NOTCH2 reported by ITMI

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Total variants: 30
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HGVS dbSNP gnomAD frequency
NM_024408.4(NOTCH2):c.7075C>G (p.Pro2359Ala) rs75831573 0.00493
NM_024408.4(NOTCH2):c.3980A>G (p.Asp1327Gly) rs61752484 0.00477
NM_024408.4(NOTCH2):c.4238T>A (p.Leu1413His) rs41313282 0.00375
NM_024408.4(NOTCH2):c.2585C>T (p.Ala862Val) rs35656321 0.00266
NM_024408.4(NOTCH2):c.3625T>G (p.Phe1209Val) rs147223770 0.00258
NM_024408.4(NOTCH2):c.7223T>A (p.Leu2408His) rs35586704 0.00228
NM_024408.4(NOTCH2):c.5065A>T (p.Ile1689Phe) rs60854092 0.00150
NM_024408.4(NOTCH2):c.6223G>A (p.Val2075Met) rs150516342 0.00141
NM_024408.4(NOTCH2):c.1396C>A (p.Gln466Lys) rs141935585 0.00047
NM_024408.4(NOTCH2):c.2479+34G>A rs368529597 0.00047
NM_024408.4(NOTCH2):c.3779G>A (p.Arg1260His) rs75423398 0.00036
NM_024408.4(NOTCH2):c.2042T>A (p.Ile681Asn) rs74882029 0.00026
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.4114C>T (p.Arg1372Trp) rs587778575 0.00011
NM_024408.4(NOTCH2):c.3995G>A (p.Arg1332His) rs587609362 0.00010
NM_024408.4(NOTCH2):c.7190C>G (p.Ala2397Gly) rs143197714 0.00009
NM_024408.4(NOTCH2):c.3143G>A (p.Arg1048His) rs142831890 0.00007
NM_024408.4(NOTCH2):c.5314G>A (p.Glu1772Lys) rs587778576 0.00006
NM_024408.4(NOTCH2):c.4820G>A (p.Arg1607His) rs372710038 0.00005
NM_024408.4(NOTCH2):c.6979A>G (p.Thr2327Ala) rs587778578 0.00005
NM_024408.4(NOTCH2):c.2479+149C>G rs782240220 0.00003
NM_024408.4(NOTCH2):c.2573C>G (p.Thr858Ser) rs782631431 0.00003
NM_024408.4(NOTCH2):c.6974A>G (p.Gln2325Arg) rs587778577 0.00003
NM_024408.4(NOTCH2):c.2479+225A>G rs782788145 0.00002
NM_024408.4(NOTCH2):c.1517A>G (p.Asn506Ser) rs73004269 0.00001
NM_024408.4(NOTCH2):c.3388G>A (p.Gly1130Ser) rs782078365 0.00001
NM_024408.4(NOTCH2):c.3700C>T (p.His1234Tyr) rs797044475 0.00001
NM_024408.4(NOTCH2):c.4999G>A (p.Val1667Ile) rs17024517
NM_024408.4(NOTCH2):c.7209T>A (p.Ser2403Arg) rs587778579

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