ClinVar Miner

Variants in gene combination CDKL5, RS1 with conflicting interpretations reported as "benign and "likely benign"

Submission 1 (benign) minimum review status: Submission 1 (benign) 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 gnomAD frequency
NM_000330.4(RS1):c.184+3118C>T rs139155110 0.00352
NM_000330.4(RS1):c.184+3199G>A rs36022183 0.00345
NM_000330.4(RS1):c.548C>T (p.Thr183Ile) rs150172233 0.00178
NM_000330.4(RS1):c.576C>T (p.Pro192=) rs186334493 0.00025
NM_000330.4(RS1):c.264G>C (p.Gln88His) rs201680258 0.00021
NM_000330.4(RS1):c.185-3134G>A rs202153551 0.00007
NM_000330.4(RS1):c.185-3208C>T rs140944590 0.00007
NM_000330.4(RS1):c.597C>A (p.Ile199=) rs200052722 0.00005
NM_000330.4(RS1):c.234G>A (p.Pro78=) rs183092299 0.00003
NM_000330.4(RS1):c.185-3281C>G rs148531754

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