ClinVar Miner

Variants in gene ADSL with conflicting interpretations "likely benign" and "benign"

Submission 1 (likely benign) minimum review status: Submission 1 (likely benign) method:
Submission 2 (benign) minimum review status: Submission 2 (benign) method:
Gene type:
ClinVar version:
Total variants with conflicting interpretations: 7
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HGVS dbSNP gnomAD frequency
NM_000026.4(ADSL):c.358-4G>A rs113199851 0.01950
NM_000026.4(ADSL):c.440A>T (p.Lys147Met) rs11089991 0.01397
NM_000026.4(ADSL):c.124C>T (p.Leu42=) rs2228415 0.00969
NM_000026.4(ADSL):c.1010+18A>G rs201019280 0.00168
NM_000026.4(ADSL):c.403-4G>A rs373652667 0.00064
NM_000026.4(ADSL):c.649C>G (p.His217Asp) rs199761158 0.00024
NM_000026.4(ADSL):c.357+7G>A rs199993991 0.00019

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