ClinVar Miner

Variants in gene ANK3 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: 30
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HGVS dbSNP gnomAD frequency
NM_020987.5(ANK3):c.5582C>T (p.Thr1861Met) rs117475706 0.00292
NM_020987.5(ANK3):c.9997A>T (p.Thr3333Ser) rs140183285 0.00178
NM_020987.5(ANK3):c.10688A>G (p.Glu3563Gly) rs147527383 0.00177
NM_020987.5(ANK3):c.4465C>T (p.Pro1489Ser) rs41274676 0.00152
NM_020987.5(ANK3):c.8534G>A (p.Gly2845Glu) rs139022925 0.00126
NM_020987.5(ANK3):c.11825A>G (p.Lys3942Arg) rs148549519 0.00116
NM_020987.5(ANK3):c.4029G>A (p.Glu1343=) rs116757606 0.00114
NM_020987.5(ANK3):c.9935C>T (p.Ala3312Val) rs201625904 0.00101
NM_020987.5(ANK3):c.7469C>T (p.Pro2490Leu) rs140741466 0.00073
NM_020987.5(ANK3):c.4826C>T (p.Thr1609Met) rs148024054 0.00058
NM_020987.5(ANK3):c.315+10A>G rs202079424 0.00050
NM_020987.5(ANK3):c.11678G>C (p.Ser3893Thr) rs12260663 0.00044
NM_020987.5(ANK3):c.11366A>G (p.Asn3789Ser) rs144123544 0.00043
NM_020987.5(ANK3):c.6555G>T (p.Gln2185His) rs144465058 0.00036
NM_020987.5(ANK3):c.2173G>A (p.Ala725Thr) rs144051466 0.00030
NM_020987.5(ANK3):c.11090C>G (p.Ser3697Cys) rs148109897 0.00024
NM_020987.5(ANK3):c.5981C>T (p.Ser1994Leu) rs141251507 0.00024
NM_020987.5(ANK3):c.4085G>C (p.Gly1362Ala) rs200556767 0.00019
NM_020987.5(ANK3):c.4907G>A (p.Arg1636Lys) rs188159332 0.00017
NM_020987.5(ANK3):c.11251A>G (p.Ser3751Gly) rs200489439 0.00014
NM_020987.5(ANK3):c.2385T>C (p.Asn795=) rs372094828 0.00014
NM_020987.5(ANK3):c.1789-10G>A rs200791367 0.00013
NM_020987.5(ANK3):c.6945T>G (p.His2315Gln) rs375411220 0.00010
NM_020987.5(ANK3):c.4314A>G (p.Ala1438=) rs199845615 0.00009
NM_020987.5(ANK3):c.2976G>A (p.Ala992=) rs747475542 0.00006
NM_020987.5(ANK3):c.4699G>A (p.Val1567Met) rs180798231 0.00006
NM_020987.5(ANK3):c.6072C>T (p.Ser2024=) rs532643979 0.00004
NM_020987.5(ANK3):c.11007C>A (p.Thr3669=) rs2131966858
NM_020987.5(ANK3):c.12672T>A (p.Asp4224Glu)
NM_020987.5(ANK3):c.2502G>A (p.Met834Ile) rs2132296500

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