ClinVar Miner

List of variants in gene PTPN11 reported as uncertain significance by Ambry Genetics

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Total variants: 64
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HGVS dbSNP gnomAD frequency
NM_002834.5(PTPN11):c.173A>G (p.Asn58Ser) rs751437780 0.00004
NM_002834.5(PTPN11):c.1327C>T (p.His443Tyr) rs779236638 0.00003
NM_002834.5(PTPN11):c.1642T>C (p.Ser548Pro) rs1057517907 0.00003
NM_002834.5(PTPN11):c.794G>T (p.Arg265Leu) rs376607329 0.00003
NM_002834.5(PTPN11):c.824A>C (p.Asn275Thr) rs397507528 0.00003
NM_002834.5(PTPN11):c.1162G>A (p.Val388Ile) rs749523268 0.00002
NM_002834.5(PTPN11):c.1190C>T (p.Thr397Met) rs767503386 0.00002
NM_002834.5(PTPN11):c.1226G>C (p.Gly409Ala) rs201247699 0.00002
NM_002834.5(PTPN11):c.1468G>A (p.Val490Ile) rs781083623 0.00002
NM_002834.5(PTPN11):c.1594G>A (p.Glu532Lys) rs587778634 0.00002
NM_002834.5(PTPN11):c.455G>A (p.Arg152His) rs397507521 0.00002
NM_002834.5(PTPN11):c.461G>C (p.Gly154Ala) rs376027245 0.00002
NM_002834.5(PTPN11):c.487G>A (p.Gly163Ser) rs730880992 0.00002
NM_002834.5(PTPN11):c.1004A>C (p.Gln335Pro) rs886041622 0.00001
NM_002834.5(PTPN11):c.1290C>A (p.Ser430Arg) rs1178602062 0.00001
NM_002834.5(PTPN11):c.1380-5C>T rs765455455 0.00001
NM_002834.5(PTPN11):c.1579C>T (p.Arg527Cys) rs191525506 0.00001
NM_002834.5(PTPN11):c.1696A>T (p.Thr566Ser) rs746712068 0.00001
NM_002834.5(PTPN11):c.642G>A (p.Gln214=) rs876661383 0.00001
NM_002834.5(PTPN11):c.757-5T>C rs1442154422 0.00001
NM_002834.5(PTPN11):c.827A>G (p.Lys276Arg) rs777603059 0.00001
NM_002834.5(PTPN11):c.931A>G (p.Met311Val) rs774939392 0.00001
NM_002834.5(PTPN11):c.967C>A (p.Pro323Thr) rs779400765 0.00001
NM_002834.5(PTPN11):c.1027C>T (p.Arg343Trp) rs1373621596
NM_002834.5(PTPN11):c.1093-3C>T
NM_002834.5(PTPN11):c.1144G>A (p.Val382Ile) rs1214510641
NM_002834.5(PTPN11):c.1148T>C (p.Met383Thr) rs1260386432
NM_002834.5(PTPN11):c.1232C>T (p.Thr411Met) rs121918467
NM_002834.5(PTPN11):c.1261C>T (p.Arg421Trp) rs1355732645
NM_002834.5(PTPN11):c.1303G>T (p.Val435Leu)
NM_002834.5(PTPN11):c.1320G>C (p.Glu440Asp)
NM_002834.5(PTPN11):c.1349T>C (p.Met450Thr) rs2135912854
NM_002834.5(PTPN11):c.1448-5C>T rs554790621
NM_002834.5(PTPN11):c.1495T>G (p.Ser499Ala)
NM_002834.5(PTPN11):c.1540A>G (p.Ile514Val)
NM_002834.5(PTPN11):c.1546A>G (p.Met516Val)
NM_002834.5(PTPN11):c.1552G>T (p.Val518Phe)
NM_002834.5(PTPN11):c.1566T>G (p.Ile522Met)
NM_002834.5(PTPN11):c.1580G>A (p.Arg527His) rs770363146
NM_002834.5(PTPN11):c.1599+4C>A rs142606486
NM_002834.5(PTPN11):c.1676C>T (p.Pro559Leu)
NM_002834.5(PTPN11):c.1720G>A (p.Glu574Lys)
NM_002834.5(PTPN11):c.1763A>G (p.Gln588Arg)
NM_002834.5(PTPN11):c.185A>G (p.Tyr62Cys)
NM_002834.5(PTPN11):c.18G>C (p.Trp6Cys)
NM_002834.5(PTPN11):c.205G>A (p.Glu69Lys) rs397507511
NM_002834.5(PTPN11):c.28A>G (p.Asn10Asp) rs368633510
NM_002834.5(PTPN11):c.28A>T (p.Asn10Tyr)
NM_002834.5(PTPN11):c.302C>T (p.Pro101Leu)
NM_002834.5(PTPN11):c.397G>A (p.Gly133Ser)
NM_002834.5(PTPN11):c.470A>G (p.Lys157Arg) rs1315568280
NM_002834.5(PTPN11):c.479G>A (p.Ser160Asn) rs1044076600
NM_002834.5(PTPN11):c.517C>T (p.Arg173Cys)
NM_002834.5(PTPN11):c.557G>A (p.Arg186Gln)
NM_002834.5(PTPN11):c.575A>G (p.Asp192Gly) rs2135869587
NM_002834.5(PTPN11):c.652A>G (p.Thr218Ala) rs768555552
NM_002834.5(PTPN11):c.710C>T (p.Ala237Val)
NM_002834.5(PTPN11):c.788A>G (p.Tyr263Cys) rs763617831
NM_002834.5(PTPN11):c.880G>A (p.Asp294Asn)
NM_002834.5(PTPN11):c.889C>G (p.Pro297Ala)
NM_002834.5(PTPN11):c.898C>A (p.Pro300Thr)
NM_002834.5(PTPN11):c.934C>A (p.Pro312Thr)
NM_002834.5(PTPN11):c.950A>G (p.Lys317Arg)
NM_002834.5(PTPN11):c.955A>G (p.Asn319Asp) rs2038531520

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