ClinVar Miner

Variants in gene ZSWIM6 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: 10
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HGVS dbSNP gnomAD frequency
NM_020928.2(ZSWIM6):c.82A>G (p.Ser28Gly) rs1456197449 0.00033
NM_020928.2(ZSWIM6):c.3035C>T (p.Thr1012Met) rs138406248 0.00004
NM_020928.2(ZSWIM6):c.2108G>A (p.Arg703His) rs995265434 0.00002
NM_020928.2(ZSWIM6):c.2372G>A (p.Arg791Lys) rs896435221 0.00001
NM_020928.2(ZSWIM6):c.151GCG[7] (p.Ala56dup) rs779283808
NM_020928.2(ZSWIM6):c.151GCG[8] (p.Ala55_Ala56dup) rs779283808
NM_020928.2(ZSWIM6):c.29C>A (p.Pro10His) rs943024318
NM_020928.2(ZSWIM6):c.442GGC[4] (p.Gly152_Gly154del)
NM_020928.2(ZSWIM6):c.442GGC[5] (p.Gly153_Gly154del) rs864309616
NM_020928.2(ZSWIM6):c.83GCG[8] (p.Gly32_Gly33dup) rs528020839

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