ClinVar Miner

Variants with conflicting interpretations "likely benign" from HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology and "uncertain significance" from any submitter

Minimum review status of the submission from HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology: Collection method of the submission from HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology:
Minimum review status of the other submission: Collection method of the other submission:
ClinVar version:
Total variants with conflicting interpretations: 6
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HGVS dbSNP gnomAD frequency
NM_020822.3(KCNT1):c.2729G>A (p.Arg910Gln) rs151272083 0.00162
NM_018136.5(ASPM):c.5947A>T (p.Met1983Leu) rs141715950 0.00115
NM_007289.4(MME):c.1241A>G (p.Tyr414Cys) rs202095767 0.00001
NM_000308.4(CTSA):c.51_54delinsC (p.Leu19del) rs886039898
NM_003105.6(SORL1):c.1247G>A (p.Arg416Gln) rs377550239
NM_020822.3(KCNT1):c.136C>T (p.Leu46Phe) rs869312682

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