ClinVar Miner

List of variants in gene NOTCH2 reported by CeGaT Center for Human Genetics Tuebingen

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Total variants: 59
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HGVS dbSNP gnomAD frequency
NM_024408.4(NOTCH2):c.272G>T (p.Arg91Leu) rs143195893 0.00899
NM_024408.4(NOTCH2):c.7075C>G (p.Pro2359Ala) rs75831573 0.00493
NM_024408.4(NOTCH2):c.435G>A (p.Thr145=) rs1615676 0.00405
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.6223G>A (p.Val2075Met) rs150516342 0.00141
NM_024408.4(NOTCH2):c.6094C>A (p.His2032Asn) rs143236410 0.00131
NM_024408.4(NOTCH2):c.6766C>T (p.Arg2256Cys) rs147522485 0.00056
NM_024408.4(NOTCH2):c.6363G>C (p.Lys2121Asn) rs144047610 0.00050
NM_024408.4(NOTCH2):c.1396C>A (p.Gln466Lys) rs141935585 0.00047
NM_024408.4(NOTCH2):c.3779G>A (p.Arg1260His) rs75423398 0.00036
NM_024408.4(NOTCH2):c.3913G>A (p.Val1305Ile) rs587688280 0.00017
NM_024408.4(NOTCH2):c.4113C>G (p.Pro1371=) rs141657857 0.00014
NM_024408.4(NOTCH2):c.786T>C (p.Asp262=) rs374224226 0.00012
NM_024408.4(NOTCH2):c.5276T>C (p.Val1759Ala) rs373166152 0.00011
NM_024408.4(NOTCH2):c.6957G>A (p.Ala2319=) rs369891453 0.00011
NM_024408.4(NOTCH2):c.6477G>A (p.Thr2159=) rs145566650 0.00009
NM_024408.4(NOTCH2):c.1315G>A (p.Ala439Thr) rs199565938 0.00008
NM_024408.4(NOTCH2):c.6767G>A (p.Arg2256His) rs148759277 0.00004
NM_024408.4(NOTCH2):c.390G>A (p.Glu130=) rs782723019 0.00002
NM_024408.4(NOTCH2):c.5731C>T (p.Arg1911Cys) rs748716440 0.00002
NM_024408.4(NOTCH2):c.85C>T (p.Arg29Ter) rs1174406807 0.00002
NM_024408.4(NOTCH2):c.1032C>T (p.Phe344=) rs782702694 0.00001
NM_024408.4(NOTCH2):c.3441G>A (p.Glu1147=) rs371875533 0.00001
GRCh37/hg19 1p12-11.2(chr1:120546301-120608823)x1
NM_024408.4(NOTCH2):c.1079_1081del (p.Phe360del) rs1570701950
NM_024408.4(NOTCH2):c.144A>G (p.Thr48=)
NM_024408.4(NOTCH2):c.1663G>A (p.Glu555Lys) rs1475043862
NM_024408.4(NOTCH2):c.1677C>A (p.Ala559=) rs1553199554
NM_024408.4(NOTCH2):c.203G>A (p.Cys68Tyr)
NM_024408.4(NOTCH2):c.2451C>T (p.Tyr817=)
NM_024408.4(NOTCH2):c.2479+230A>C
NM_024408.4(NOTCH2):c.2796T>G (p.Thr932=)
NM_024408.4(NOTCH2):c.3144C>T (p.Arg1048=)
NM_024408.4(NOTCH2):c.4077C>T (p.His1359=)
NM_024408.4(NOTCH2):c.434C>T (p.Thr145Met)
NM_024408.4(NOTCH2):c.4692C>G (p.Ser1564Arg) rs774541297
NM_024408.4(NOTCH2):c.4859+191G>A
NM_024408.4(NOTCH2):c.4859+54G>C
NM_024408.4(NOTCH2):c.4860-164A>G
NM_024408.4(NOTCH2):c.4999G>A (p.Val1667Ile) rs17024517
NM_024408.4(NOTCH2):c.516A>G (p.Thr172=)
NM_024408.4(NOTCH2):c.5795A>G (p.Asn1932Ser)
NM_024408.4(NOTCH2):c.57C>T (p.Cys19=) rs11810554
NM_024408.4(NOTCH2):c.5983_5984del (p.Leu1995fs) rs1649134213
NM_024408.4(NOTCH2):c.6106C>T (p.Arg2036Ter)
NM_024408.4(NOTCH2):c.6363G>A (p.Lys2121=)
NM_024408.4(NOTCH2):c.6498C>T (p.Ser2166=)
NM_024408.4(NOTCH2):c.6837T>C (p.His2279=) rs886044699
NM_024408.4(NOTCH2):c.684A>G (p.Ser228=)
NM_024408.4(NOTCH2):c.6881T>C (p.Ile2294Thr)
NM_024408.4(NOTCH2):c.703A>T (p.Thr235Ser)
NM_024408.4(NOTCH2):c.7120C>G (p.His2374Asp)
NM_024408.4(NOTCH2):c.719G>C (p.Gly240Ala) rs1464974590
NM_024408.4(NOTCH2):c.728C>G (p.Thr243Ser)
NM_024408.4(NOTCH2):c.751+289G>C
NM_024408.4(NOTCH2):c.751+6G>C

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