ClinVar Miner

Variants in gene SCN1A with conflicting interpretations "likely pathogenic" and "uncertain significance"

Submission 1 (likely pathogenic) minimum review status: Submission 1 (likely pathogenic) method:
Submission 2 (uncertain significance) minimum review status: Submission 2 (uncertain significance) method:
Gene type:
ClinVar version:
Total variants with conflicting interpretations: 14
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HGVS dbSNP gnomAD frequency
NM_001165963.4(SCN1A):c.2240T>C (p.Ile747Thr) rs980156920 0.00001
NM_001165963.4(SCN1A):c.2522C>T (p.Thr841Met) rs750901301 0.00001
NM_001165963.4(SCN1A):c.1091G>T (p.Ser364Ile) rs752775574
NM_001165963.4(SCN1A):c.1204T>C (p.Phe402Leu) rs796053094
NM_001165963.4(SCN1A):c.2360T>C (p.Met787Thr) rs773695263
NM_001165963.4(SCN1A):c.2585G>A (p.Arg862Gln) rs121918785
NM_001165963.4(SCN1A):c.2839G>A (p.Val947Met) rs796052986
NM_001165963.4(SCN1A):c.2941C>A (p.Leu981Ile) rs1057518112
NM_001165963.4(SCN1A):c.314C>A (p.Thr105Asn)
NM_001165963.4(SCN1A):c.383+5C>A rs1060502185
NM_001165963.4(SCN1A):c.472G>C (p.Glu158Gln) rs796053090
NM_001165963.4(SCN1A):c.672G>C (p.Leu224Phe)
NM_001165963.4(SCN1A):c.748G>A (p.Val250Ile) rs796052962
NM_001165963.4(SCN1A):c.986G>T (p.Gly329Val) rs779184118

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