ClinVar Miner

Variants in gene SCN2A with conflicting interpretations "uncertain significance" and "likely pathogenic"

Submission 1 (uncertain significance) minimum review status: Submission 1 (uncertain significance) method:
Submission 2 (likely pathogenic) minimum review status: Submission 2 (likely pathogenic) method:
Gene type:
ClinVar version:
Total variants with conflicting interpretations: 11
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HGVS dbSNP gnomAD frequency
NM_001040142.2(SCN2A):c.1820G>A (p.Arg607Gln) rs755003900
NM_001040142.2(SCN2A):c.2642T>C (p.Leu881Pro) rs796053116
NM_001040142.2(SCN2A):c.2654C>T (p.Thr885Ile) rs1699477928
NM_001040142.2(SCN2A):c.2696G>A (p.Gly899Asp) rs796053121
NM_001040142.2(SCN2A):c.2774T>C (p.Met925Thr) rs1057518373
NM_001040142.2(SCN2A):c.2939C>G (p.Ala980Gly) rs1700069190
NM_001040142.2(SCN2A):c.3643G>T (p.Val1215Phe) rs1064795832
NM_001040142.2(SCN2A):c.4534C>T (p.Pro1512Ser) rs1558879940
NM_001040142.2(SCN2A):c.5485C>T (p.Leu1829Phe) rs1553463676
NM_001040142.2(SCN2A):c.5636T>C (p.Met1879Thr) rs2105403536
NM_001040142.2(SCN2A):c.622G>A (p.Val208Met) rs1064796373

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