ClinVar Miner

List of variants in gene PTPN11 reported as uncertain significance by EGL Genetic Diagnostics,Eurofins Clinical Diagnostics

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Total variants: 13
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HGVS dbSNP
NM_002834.4(PTPN11):c.1052G>A (p.Arg351Gln) rs397507534
NM_002834.4(PTPN11):c.1144G>A (p.Val382Ile) rs1214510641
NM_002834.4(PTPN11):c.1327C>T (p.His443Tyr) rs779236638
NM_002834.4(PTPN11):c.132C>T (p.Ser44=) rs397507502
NM_002834.4(PTPN11):c.1449T>G (p.Gly483=) rs143238917
NM_002834.4(PTPN11):c.1740T>C (p.Tyr580=) rs139188627
NM_002834.4(PTPN11):c.175A>G (p.Thr59Ala) rs886043790
NM_002834.4(PTPN11):c.215C>T (p.Ala72Val) rs121918454
NM_002834.4(PTPN11):c.244A>G (p.Met82Val) rs397507515
NM_002834.4(PTPN11):c.48A>G (p.Ala16=) rs372736227
NM_002834.4(PTPN11):c.642G>A (p.Gln214=) rs876661383
NM_002834.4(PTPN11):c.806A>G (p.Gln269Arg) rs794727858
NM_002834.4(PTPN11):c.933+4A>T rs1566181112

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