ClinVar Miner

Variants in gene PTPN11 with conflicting interpretations "uncertain significance" and "likely benign"

Submission 1 (uncertain significance) minimum review status: Submission 1 (uncertain significance) method:
Submission 2 (likely benign) minimum review status: Submission 2 (likely benign) method:
Gene type:
ClinVar version:
Total variants with conflicting interpretations: 10
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HGVS dbSNP
NM_002834.4(PTPN11):c.132C>T (p.Ser44=) rs397507502
NM_002834.4(PTPN11):c.1649C>T (p.Ala550Val) rs767712281
NM_002834.4(PTPN11):c.1740T>C (p.Tyr580=) rs139188627
NM_002834.5(PTPN11):c.1449T>G (p.Gly483=) rs143238917
NM_002834.5(PTPN11):c.1678C>T (p.Leu560Phe) rs397516797
NM_002834.5(PTPN11):c.1682C>T (p.Pro561Leu) rs141140214
NM_002834.5(PTPN11):c.333-3T>C rs146749153
NM_002834.5(PTPN11):c.392A>G (p.Lys131Arg) rs397516805
NM_002834.5(PTPN11):c.48A>G (p.Ala16=) rs372736227
NM_002834.5(PTPN11):c.556C>T (p.Arg186Trp) rs143433437

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