ClinVar Miner

List of variants in gene PTPN11 reported as uncertain significance for Rasopathy

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Total variants: 29
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HGVS dbSNP
NC_000012.11:g.(?_112856896)_(112942588_?)dup
NM_002834.4(PTPN11):c.1004A>C (p.Gln335Pro) rs886041622
NM_002834.4(PTPN11):c.1041A>G (p.Gln347=)
NM_002834.4(PTPN11):c.1057A>C (p.Ile353Leu)
NM_002834.4(PTPN11):c.1190C>T (p.Thr397Met) rs767503386
NM_002834.4(PTPN11):c.1216G>A (p.Val406Ile)
NM_002834.4(PTPN11):c.127C>T (p.Leu43Phe) rs1566164987
NM_002834.4(PTPN11):c.1281C>T (p.Gly427=) rs753173299
NM_002834.4(PTPN11):c.1327C>T (p.His443Tyr) rs779236638
NM_002834.4(PTPN11):c.1366G>A (p.Val456Met) rs397516796
NM_002834.4(PTPN11):c.14+6G>T
NM_002834.4(PTPN11):c.155C>T (p.Thr52Ile) rs397507503
NM_002834.4(PTPN11):c.1658C>T (p.Thr553Met) rs148176616
NM_002834.4(PTPN11):c.1675C>T (p.Pro559Ser) rs1060502526
NM_002834.4(PTPN11):c.1676C>G (p.Pro559Arg) rs1253971623
NM_002834.4(PTPN11):c.1678C>T (p.Leu560Phe) rs397516797
NM_002834.4(PTPN11):c.167T>C (p.Ile56Thr) rs1052382672
NM_002834.4(PTPN11):c.1682C>T (p.Pro561Leu) rs141140214
NM_002834.4(PTPN11):c.173A>G (p.Asn58Ser) rs751437780
NM_002834.4(PTPN11):c.223G>C (p.Ala75Pro) rs1555267561
NM_002834.4(PTPN11):c.244A>G (p.Met82Val) rs397507515
NM_002834.4(PTPN11):c.333-3T>C rs146749153
NM_002834.4(PTPN11):c.369G>T (p.Glu123Asp) rs755619262
NM_002834.4(PTPN11):c.392A>G (p.Lys131Arg) rs397516805
NM_002834.4(PTPN11):c.418A>T (p.Ser140Cys) rs1060502527
NM_002834.4(PTPN11):c.487G>A (p.Gly163Ser) rs730880992
NM_002834.4(PTPN11):c.642G>A (p.Gln214=) rs876661383
NM_002834.4(PTPN11):c.782T>G (p.Leu261Arg) rs765642157
NM_002834.4(PTPN11):c.931A>G (p.Met311Val) rs774939392

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