ClinVar Miner

List of variants reported as uncertain significance for Noonan syndrome 1; Juvenile myelomonocytic leukemia; Metachondromatosis; LEOPARD syndrome 1

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Total variants: 29
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HGVS dbSNP gnomAD frequency
NM_002834.5(PTPN11):c.1678C>T (p.Leu560Phe) rs397516797 0.00007
NM_002834.5(PTPN11):c.1682C>T (p.Pro561Leu) rs141140214 0.00006
NM_002834.5(PTPN11):c.893A>G (p.Asn298Ser) rs572274623 0.00004
NM_002834.5(PTPN11):c.1327C>T (p.His443Tyr) rs779236638 0.00003
NM_002834.5(PTPN11):c.1041A>G (p.Gln347=) rs766297596 0.00002
NM_002834.5(PTPN11):c.1226G>C (p.Gly409Ala) rs201247699 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.1048T>G (p.Ser350Ala) rs146571700 0.00001
NM_002834.5(PTPN11):c.1124A>G (p.Tyr375Cys) rs41299183 0.00001
NM_002834.5(PTPN11):c.244A>G (p.Met82Val) rs397507515 0.00001
NM_002834.5(PTPN11):c.289G>C (p.Glu97Gln) rs397507516 0.00001
NM_002834.5(PTPN11):c.563A>G (p.Asp188Gly) rs1436513335 0.00001
NM_002834.5(PTPN11):c.642G>A (p.Gln214=) rs876661383 0.00001
NM_002834.5(PTPN11):c.931A>G (p.Met311Val) rs774939392 0.00001
NM_002834.5(PTPN11):c.957C>T (p.Asn319=) rs771407775 0.00001
NM_002834.5(PTPN11):c.1144G>A (p.Val382Ile) rs1214510641
NM_002834.5(PTPN11):c.1261C>T (p.Arg421Trp) rs1355732645
NM_002834.5(PTPN11):c.127C>G (p.Leu43Val) rs1566164987
NM_002834.5(PTPN11):c.127C>T (p.Leu43Phe) rs1566164987
NM_002834.5(PTPN11):c.1498C>G (p.Gln500Glu) rs2038714548
NM_002834.5(PTPN11):c.1685C>T (p.Pro562Leu) rs2038884191
NM_002834.5(PTPN11):c.222G>A (p.Leu74=) rs1429492147
NM_002834.5(PTPN11):c.289G>A (p.Glu97Lys) rs397507516
NM_002834.5(PTPN11):c.329A>G (p.Glu110Gly) rs397507519
NM_002834.5(PTPN11):c.762ACA[2] (p.Gln257del) rs397507524
NM_002834.5(PTPN11):c.770A>G (p.Gln257Arg) rs2038442309
NM_002834.5(PTPN11):c.788A>G (p.Tyr263Cys) rs763617831
NM_002834.5(PTPN11):c.865A>G (p.Arg289Gly) rs2135901005

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