ClinVar Miner

Variants in gene ANKRD1 with conflicting interpretations "likely benign" and "benign"

Submission 1 (likely benign) minimum review status: Submission 1 (likely benign) method:
Submission 2 (benign) minimum review status: Submission 2 (benign) method:
Gene type:
ClinVar version:
Total variants with conflicting interpretations: 30
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HGVS dbSNP gnomAD frequency
NM_014391.3(ANKRD1):c.346-15T>A rs11595794 0.01849
NM_014391.3(ANKRD1):c.-17A>G rs79341122 0.00753
NM_014391.3(ANKRD1):c.348G>A (p.Thr116=) rs137914723 0.00748
NM_014391.3(ANKRD1):c.148G>C (p.Ala50Pro) rs28730751 0.00387
NM_014391.3(ANKRD1):c.319G>T (p.Val107Leu) rs114435632 0.00269
NM_014391.3(ANKRD1):c.827C>T (p.Ala276Val) rs35550482 0.00244
NM_014391.3(ANKRD1):c.208-15G>A rs116511484 0.00184
NM_014391.3(ANKRD1):c.208-16C>T rs79793575 0.00161
NM_014391.3(ANKRD1):c.197G>A (p.Arg66Gln) rs150797476 0.00092
NM_014391.3(ANKRD1):c.369G>A (p.Thr123=) rs148979787 0.00069
NM_014391.3(ANKRD1):c.368C>T (p.Thr123Met) rs145387010 0.00030
NM_014391.3(ANKRD1):c.652-10A>T rs397517252 0.00023
NM_014391.3(ANKRD1):c.603T>G (p.Val201=) rs781049118 0.00015
NM_014391.3(ANKRD1):c.750+17G>A rs373898620 0.00010
NM_014391.3(ANKRD1):c.108T>C (p.Ala36=) rs145211719 0.00009
NM_014391.3(ANKRD1):c.150C>G (p.Ala50=) rs147484763 0.00006
NM_014391.3(ANKRD1):c.652-8T>C rs753205311 0.00002
NM_014391.3(ANKRD1):c.560C>T (p.Ser187Phe) rs397517251 0.00001
NM_014391.3(ANKRD1):c.196C>G (p.Arg66Gly) rs397517249
NM_014391.3(ANKRD1):c.346-15_346-14del rs794728971
NM_014391.3(ANKRD1):c.346-17_346-10del rs397517250
NM_014391.3(ANKRD1):c.346-19_346-18del rs398014415
NM_014391.3(ANKRD1):c.346-27_346-12del rs751818504
NM_014391.3(ANKRD1):c.346-29_346-12del rs72003210
NM_014391.3(ANKRD1):c.346-31_346-12del rs750974250
NM_014391.3(ANKRD1):c.346-43AT[11] rs60406118
NM_014391.3(ANKRD1):c.346-43AT[13] rs60406118
NM_014391.3(ANKRD1):c.346-43AT[15] rs60406118
NM_014391.3(ANKRD1):c.346-43AT[9] rs60406118
NM_014391.3(ANKRD1):c.652-13del rs3839929

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