ClinVar Miner

List of variants in gene PTPN11 reported by Genetic Services Laboratory, University of Chicago

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Gene type:
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Total variants: 20
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HGVS dbSNP gnomAD frequency
NM_002834.5(PTPN11):c.525+12G>C rs41304351 0.01035
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.643-6dup rs758889732 0.00030
NM_002834.5(PTPN11):c.925A>G (p.Ile309Val) rs201787206 0.00026
NM_002834.5(PTPN11):c.558G>T (p.Arg186=) rs200920312 0.00011
NM_002834.5(PTPN11):c.1449T>G (p.Gly483=) rs143238917 0.00009
NM_002834.5(PTPN11):c.990A>C (p.Thr330=) rs369739920 0.00005
NM_002834.5(PTPN11):c.173A>G (p.Asn58Ser) rs751437780 0.00004
NM_002834.5(PTPN11):c.1282G>A (p.Val428Met) rs397507536 0.00003
NM_002834.5(PTPN11):c.1404G>C (p.Thr468=) rs587781130 0.00003
NM_002834.5(PTPN11):c.879C>T (p.His293=) rs117730996 0.00003
NM_002834.5(PTPN11):c.951G>A (p.Lys317=) rs576405446 0.00001
NM_002834.5(PTPN11):c.1221A>G (p.Gly407=) rs532529560
NM_002834.5(PTPN11):c.1303G>A (p.Val435Met) rs1054802954
NM_002834.5(PTPN11):c.172A>G (p.Asn58Asp) rs397507505
NM_002834.5(PTPN11):c.1741G>A (p.Glu581Lys) rs2135930858
NM_002834.5(PTPN11):c.181G>A (p.Asp61Asn) rs397507510
NM_002834.5(PTPN11):c.36T>C (p.Thr12=) rs760086740
NM_002834.5(PTPN11):c.5C>T (p.Thr2Ile) rs267606990

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