ClinVar Miner

List of variants in gene PTPN11 reported as likely benign by CeGaT Center for Human Genetics Tuebingen

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Gene type:
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Total variants: 17
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HGVS dbSNP gnomAD frequency
NM_002834.5(PTPN11):c.526-8C>A rs184804143 0.00064
NM_002834.5(PTPN11):c.1658C>T (p.Thr553Met) rs148176616 0.00048
NM_002834.5(PTPN11):c.48A>G (p.Ala16=) rs372736227 0.00029
NM_002834.5(PTPN11):c.925A>G (p.Ile309Val) rs201787206 0.00026
NM_002834.5(PTPN11):c.1746C>T (p.Asn582=) rs397516800 0.00013
NM_002834.5(PTPN11):c.558G>T (p.Arg186=) rs200920312 0.00011
NM_002834.5(PTPN11):c.486C>T (p.Asp162=) rs397507522 0.00009
NM_002834.5(PTPN11):c.1682C>T (p.Pro561Leu) rs141140214 0.00006
NM_002834.5(PTPN11):c.1143C>T (p.Gly381=) rs781677115 0.00004
NM_002834.5(PTPN11):c.540C>T (p.Asp180=) rs753269427 0.00003
NM_002834.5(PTPN11):c.1131A>C (p.Leu377=) rs370059077 0.00001
NM_002834.5(PTPN11):c.996C>T (p.Gly332=) rs397507533 0.00001
NM_002834.5(PTPN11):c.*1157ATG[17] rs80269561
NM_002834.5(PTPN11):c.1098A>G (p.Lys366=) rs2135906673
NM_002834.5(PTPN11):c.1281C>T (p.Gly427=) rs753173299
NM_002834.5(PTPN11):c.1362G>C (p.Pro454=)
NM_002834.5(PTPN11):c.432T>C (p.Pro144=)

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