ClinVar Miner

List of variants in gene PTPN11 reported as uncertain significance by CeGaT Center for Human Genetics Tuebingen

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Total variants: 7
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HGVS dbSNP gnomAD frequency
NM_002834.5(PTPN11):c.1282G>A (p.Val428Met) rs397507536 0.00003
NM_002834.5(PTPN11):c.1579C>T (p.Arg527Cys) rs191525506 0.00001
NM_002834.5(PTPN11):c.10C>G (p.Arg4Gly) rs886041517
NM_002834.5(PTPN11):c.1144G>A (p.Val382Ile) rs1214510641
NM_002834.5(PTPN11):c.1232C>T (p.Thr411Met) rs121918467
NM_002834.5(PTPN11):c.661A>G (p.Ile221Val) rs397516806
NM_002834.5(PTPN11):c.921_933+11del

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