ClinVar Miner

List of variants in gene PTPN11 reported as benign for Cardiovascular phenotype

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Total variants: 6
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HGVS dbSNP gnomAD frequency
NM_002834.5(PTPN11):c.255C>T (p.His85=) rs61736914 0.02271
NM_002834.5(PTPN11):c.525+12G>C rs41304351 0.01035
NM_002834.5(PTPN11):c.1028G>A (p.Arg343Gln) rs535800148 0.00001
NM_002834.5(PTPN11):c.1052G>A (p.Arg351Gln) rs397507534
NM_002834.5(PTPN11):c.1221A>G (p.Gly407=) rs532529560
NM_002834.5(PTPN11):c.53A>G (p.Asn18Ser) rs587778635

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