ClinVar Miner

Variants in gene ARX with conflicting interpretations "uncertain significance" and "likely benign"

Submission 1 (uncertain significance) minimum review status: Submission 1 (uncertain significance) method:
Submission 2 (likely benign) minimum review status: Submission 2 (likely benign) method:
Gene type:
ClinVar version:
Total variants with conflicting interpretations: 14
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HGVS dbSNP gnomAD frequency
NM_139058.3(ARX):c.1671G>A (p.Thr557=) rs190910161 0.00349
NM_139058.3(ARX):c.802G>T (p.Val268Leu) rs587783141 0.00093
NM_139058.3(ARX):c.1119+6C>T rs201300786 0.00015
NM_139058.3(ARX):c.1269C>T (p.His423=) rs794727656 0.00008
NM_139058.3(ARX):c.1170C>T (p.Gly390=) rs761632870 0.00006
NM_139058.3(ARX):c.211A>T (p.Ser71Cys) rs587783194 0.00006
NM_139058.3(ARX):c.223T>G (p.Phe75Val) rs999545482 0.00005
NM_139058.3(ARX):c.1462A>G (p.Met488Val) rs767404024 0.00004
NM_139058.3(ARX):c.1272G>A (p.Pro424=) rs398124507 0.00002
NM_139058.3(ARX):c.187G>A (p.Ala63Thr) rs769996976 0.00001
NM_139058.3(ARX):c.1300GCC[4] (p.Ala438_Ala440del) rs398124508
NM_139058.3(ARX):c.1300GCC[8] (p.Ala440dup) rs398124508
NM_139058.3(ARX):c.596C>G (p.Thr199Arg) rs1268774120
NM_139058.3(ARX):c.651G>T (p.Ala217=) rs587783204

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