ClinVar Miner

List of variants in gene NOTCH3 reported as likely benign by PreventionGenetics, part of Exact Sciences

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Gene type:
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Total variants: 51
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HGVS dbSNP gnomAD frequency
NM_000435.3(NOTCH3):c.4044C>T (p.Gly1348=) rs78926093 0.00784
NM_000435.3(NOTCH3):c.4552C>A (p.Leu1518Met) rs141320511 0.00217
NM_000435.3(NOTCH3):c.509A>G (p.His170Arg) rs147373451 0.00184
NM_000435.3(NOTCH3):c.3314G>C (p.Gly1105Ala) rs143764521 0.00158
NM_000435.3(NOTCH3):c.1931T>A (p.Val644Asp) rs148046938 0.00063
NM_000435.3(NOTCH3):c.6532C>T (p.Pro2178Ser) rs751951476 0.00059
NM_000435.3(NOTCH3):c.3629G>A (p.Arg1210His) rs35031555 0.00041
NM_000435.3(NOTCH3):c.2580C>T (p.Asn860=) rs201436750 0.00035
NM_000435.3(NOTCH3):c.3523C>T (p.Arg1175Trp) rs200504060 0.00028
NM_000435.3(NOTCH3):c.964G>A (p.Val322Met) rs115029695 0.00025
NM_000435.3(NOTCH3):c.884T>G (p.Leu295Arg) rs143117018 0.00024
NM_000435.3(NOTCH3):c.6504G>C (p.Val2168=) rs546608637 0.00021
NM_000435.3(NOTCH3):c.831G>A (p.Glu277=) rs145049433 0.00021
NM_000435.3(NOTCH3):c.2738C>T (p.Pro913Leu) rs370422650 0.00019
NM_000435.3(NOTCH3):c.5114+10C>G rs369547319 0.00019
NM_000435.3(NOTCH3):c.3328-8C>A rs200360207 0.00017
NM_000435.3(NOTCH3):c.4455C>T (p.Asp1485=) rs552265898 0.00014
NM_000435.3(NOTCH3):c.499C>T (p.Pro167Ser) rs202157633 0.00014
NM_000435.3(NOTCH3):c.1690G>A (p.Ala564Thr) rs374767079 0.00013
NM_000435.3(NOTCH3):c.3569G>A (p.Arg1190His) rs372241697 0.00013
NM_000435.3(NOTCH3):c.6061G>A (p.Val2021Met) rs199620476 0.00013
NM_000435.3(NOTCH3):c.6809C>T (p.Thr2270Met) rs148716935 0.00011
NM_000435.3(NOTCH3):c.4560G>T (p.Pro1520=) rs370010007 0.00010
NM_000435.3(NOTCH3):c.5284G>A (p.Val1762Met) rs756495084 0.00010
NM_000435.3(NOTCH3):c.3639C>T (p.Ala1213=) rs374239471 0.00009
NM_000435.3(NOTCH3):c.120C>G (p.Ala40=) rs146904189 0.00006
NM_000435.3(NOTCH3):c.2070A>G (p.Pro690=) rs370780913 0.00006
NM_000435.3(NOTCH3):c.2652C>T (p.Cys884=) rs767473898 0.00006
NM_000435.3(NOTCH3):c.6619C>T (p.Arg2207Trp) rs753170185 0.00006
NM_000435.3(NOTCH3):c.4793A>T (p.Asp1598Val) rs201167365 0.00004
NM_000435.3(NOTCH3):c.4914A>G (p.Glu1638=) rs149222385 0.00003
NM_000435.3(NOTCH3):c.762C>T (p.Gly254=) rs747601491 0.00002
NM_000435.3(NOTCH3):c.1840+19G>A rs886038298 0.00001
NM_000435.3(NOTCH3):c.118+19G>T
NM_000435.3(NOTCH3):c.118+20C>A
NM_000435.3(NOTCH3):c.1965C>T (p.Asn655=)
NM_000435.3(NOTCH3):c.2052G>A (p.Pro684=)
NM_000435.3(NOTCH3):c.2411-5C>T
NM_000435.3(NOTCH3):c.4566G>A (p.Glu1522=)
NM_000435.3(NOTCH3):c.4569G>A (p.Glu1523=)
NM_000435.3(NOTCH3):c.5286G>T (p.Val1762=)
NM_000435.3(NOTCH3):c.5790T>C (p.Ala1930=) rs1425060067
NM_000435.3(NOTCH3):c.6003C>T (p.Thr2001=)
NM_000435.3(NOTCH3):c.6019C>T (p.Leu2007=)
NM_000435.3(NOTCH3):c.6036C>A (p.Ala2012=)
NM_000435.3(NOTCH3):c.6267G>C (p.Pro2089=) rs577303432
NM_000435.3(NOTCH3):c.6612G>A (p.Pro2204=)
NM_000435.3(NOTCH3):c.6894C>T (p.Ser2298=)
NM_000435.3(NOTCH3):c.87GCT[3] (p.Leu33del)
NM_000435.3(NOTCH3):c.882G>A (p.Thr294=)
NM_000435.3(NOTCH3):c.897C>T (p.Ser299=)

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