ClinVar Miner

List of variants in gene PTPN11 reported as uncertain significance by Eurofins NTD LLC (GA)

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Total variants: 13
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HGVS dbSNP gnomAD frequency
NM_002834.5(PTPN11):c.48A>G (p.Ala16=) rs372736227 0.00029
NM_002834.5(PTPN11):c.1449T>G (p.Gly483=) rs143238917 0.00009
NM_002834.5(PTPN11):c.1740T>C (p.Tyr580=) rs139188627 0.00008
NM_002834.5(PTPN11):c.132C>T (p.Ser44=) rs397507502 0.00006
NM_002834.5(PTPN11):c.1327C>T (p.His443Tyr) rs779236638 0.00003
NM_002834.5(PTPN11):c.175A>G (p.Thr59Ala) rs886043790 0.00001
NM_002834.5(PTPN11):c.244A>G (p.Met82Val) rs397507515 0.00001
NM_002834.5(PTPN11):c.642G>A (p.Gln214=) rs876661383 0.00001
NM_002834.5(PTPN11):c.1052G>A (p.Arg351Gln) rs397507534
NM_002834.5(PTPN11):c.1144G>A (p.Val382Ile) rs1214510641
NM_002834.5(PTPN11):c.215C>T (p.Ala72Val) rs121918454
NM_002834.5(PTPN11):c.806A>G (p.Gln269Arg) rs794727858
NM_002834.5(PTPN11):c.933+4A>T rs1566181112

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