ClinVar Miner

Variants in gene ADSL with conflicting interpretations "benign" and "uncertain significance"

Submission 1 (benign) minimum review status: Submission 1 (benign) method:
Submission 2 (uncertain significance) minimum review status: Submission 2 (uncertain significance) method:
Gene type:
ClinVar version:
Total variants with conflicting interpretations: 6
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HGVS dbSNP gnomAD frequency
NM_000026.4(ADSL):c.403-4G>A rs373652667 0.00064
NM_000026.4(ADSL):c.702-7T>C rs201509960 0.00045
NM_000026.4(ADSL):c.357+7G>A rs199993991 0.00019
NM_000026.4(ADSL):c.357+6C>T rs181628906 0.00015
NM_000026.4(ADSL):c.735A>T (p.Arg245=) rs143977255 0.00013
NM_000026.4(ADSL):c.1200T>C (p.His400=) rs751401941 0.00005

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