ClinVar Miner

List of variants in gene NOTCH2 reported as uncertain significance for Inborn genetic diseases

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Total variants: 47
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HGVS dbSNP gnomAD frequency
NM_024408.4(NOTCH2):c.6362A>G (p.Lys2121Arg) rs148393324 0.00013
NM_024408.4(NOTCH2):c.4169A>G (p.His1390Arg) rs373035180 0.00006
NM_024408.4(NOTCH2):c.6338C>T (p.Pro2113Leu) rs767621140 0.00005
NM_024408.4(NOTCH2):c.4142G>A (p.Ser1381Asn) rs886044453 0.00004
NM_024408.4(NOTCH2):c.3467A>G (p.Asn1156Ser) rs782760871 0.00003
NM_024408.4(NOTCH2):c.4270A>G (p.Thr1424Ala) rs760325217 0.00003
NM_024408.4(NOTCH2):c.7342G>T (p.Ala2448Ser) rs764210725 0.00003
NM_024408.4(NOTCH2):c.4454A>G (p.Asn1485Ser) rs771682706 0.00002
NM_024408.4(NOTCH2):c.4639C>G (p.Leu1547Val) rs1241715192 0.00002
NM_024408.4(NOTCH2):c.6898C>T (p.Pro2300Ser) rs765911576 0.00002
NM_024408.4(NOTCH2):c.6079A>G (p.Lys2027Glu) rs1283460236 0.00001
NM_024408.4(NOTCH2):c.6911T>C (p.Ile2304Thr) rs1370844431 0.00001
NM_024408.4(NOTCH2):c.161C>T (p.Pro54Leu)
NM_024408.4(NOTCH2):c.1650C>A (p.His550Gln)
NM_024408.4(NOTCH2):c.196G>A (p.Asp66Asn)
NM_024408.4(NOTCH2):c.198C>A (p.Asp66Glu)
NM_024408.4(NOTCH2):c.2318A>G (p.Asp773Gly)
NM_024408.4(NOTCH2):c.2321A>G (p.Asn774Ser)
NM_024408.4(NOTCH2):c.2794A>G (p.Thr932Ala) rs1650070015
NM_024408.4(NOTCH2):c.28T>C (p.Trp10Arg)
NM_024408.4(NOTCH2):c.3131T>A (p.Leu1044Gln)
NM_024408.4(NOTCH2):c.3154C>A (p.Pro1052Thr) rs1417119248
NM_024408.4(NOTCH2):c.3194A>G (p.Asn1065Ser)
NM_024408.4(NOTCH2):c.3412C>T (p.Pro1138Ser)
NM_024408.4(NOTCH2):c.355G>A (p.Gly119Ser)
NM_024408.4(NOTCH2):c.3761C>T (p.Pro1254Leu)
NM_024408.4(NOTCH2):c.377G>A (p.Arg126Gln)
NM_024408.4(NOTCH2):c.3857A>G (p.Asn1286Ser)
NM_024408.4(NOTCH2):c.4001C>G (p.Pro1334Arg)
NM_024408.4(NOTCH2):c.4060G>T (p.Gly1354Trp)
NM_024408.4(NOTCH2):c.4081G>C (p.Ala1361Pro)
NM_024408.4(NOTCH2):c.4244C>G (p.Thr1415Arg)
NM_024408.4(NOTCH2):c.4265C>T (p.Pro1422Leu)
NM_024408.4(NOTCH2):c.4525T>C (p.Cys1509Arg)
NM_024408.4(NOTCH2):c.4610A>C (p.Asp1537Ala)
NM_024408.4(NOTCH2):c.466G>A (p.Gly156Arg)
NM_024408.4(NOTCH2):c.4720C>T (p.His1574Tyr)
NM_024408.4(NOTCH2):c.4886A>C (p.Asn1629Thr)
NM_024408.4(NOTCH2):c.494A>T (p.Gln165Leu)
NM_024408.4(NOTCH2):c.4993T>A (p.Ser1665Thr)
NM_024408.4(NOTCH2):c.5172C>G (p.His1724Gln) rs1557804894
NM_024408.4(NOTCH2):c.5470C>T (p.Arg1824Cys)
NM_024408.4(NOTCH2):c.6015G>A (p.Met2005Ile)
NM_024408.4(NOTCH2):c.6127G>A (p.Asp2043Asn)
NM_024408.4(NOTCH2):c.7036G>A (p.Ala2346Thr)
NM_024408.4(NOTCH2):c.741C>A (p.Asn247Lys)
NM_024408.4(NOTCH2):c.863C>A (p.Pro288Gln)

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