ClinVar Miner

Variants in gene VSX2 with conflicting interpretations "likely benign" and "uncertain significance"

Submission 1 (likely benign) minimum review status: Submission 1 (likely benign) method:
Submission 2 (uncertain significance) minimum review status: Submission 2 (uncertain significance) method:
Gene type:
ClinVar version:
Total variants with conflicting interpretations: 9
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HGVS dbSNP gnomAD frequency
NM_182894.3(VSX2):c.162C>A (p.Asp54Glu) rs61747367 0.00226
NM_182894.3(VSX2):c.939T>A (p.Ala313=) rs372651860 0.00051
NM_182894.3(VSX2):c.244G>A (p.Gly82Arg) rs375294678 0.00021
NM_182894.3(VSX2):c.504C>T (p.Asn168=) rs550984628 0.00005
NM_182894.3(VSX2):c.777G>A (p.Ser259=) rs371707151 0.00003
NM_182894.3(VSX2):c.371-14C>T rs750778630 0.00001
NM_182894.3(VSX2):c.760+11G>A rs777886580
NM_182894.3(VSX2):c.777G>T (p.Ser259=) rs371707151
NM_182894.3(VSX2):c.810C>G (p.Pro270=) rs759166720

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