ClinVar Miner

Variants in gene ANK1 with conflicting interpretations "benign" and "uncertain significance"

Submission 1 (benign) minimum review status: Submission 1 (benign) method:
Submission 2 (uncertain significance) minimum review status: Submission 2 (uncertain significance) method:
Gene type:
ClinVar version:
Total variants with conflicting interpretations: 30
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HGVS dbSNP gnomAD frequency
NM_001142446.2(ANK1):c.127-39509T>C rs77173848 0.04675
NM_001142446.2(ANK1):c.127-39554G>A rs183894680 0.01664
NM_000037.4(ANK1):c.4008G>A (p.Pro1336=) rs147536061 0.01340
NM_000037.4(ANK1):c.5544+91C>T rs72638959 0.00849
NM_000037.4(ANK1):c.1590C>T (p.Ala530=) rs61758865 0.00673
NM_000037.4(ANK1):c.3399C>T (p.Thr1133=) rs117516263 0.00465
NM_000037.4(ANK1):c.3033C>T (p.Ser1011=) rs61758866 0.00422
NM_000037.4(ANK1):c.1506C>T (p.Ala502=) rs34387324 0.00407
NM_000037.4(ANK1):c.2403G>A (p.Lys801=) rs147130318 0.00376
NM_000037.4(ANK1):c.2735+10G>A rs75296105 0.00374
NM_000037.4(ANK1):c.5544+46G>A rs114905632 0.00304
NM_000037.4(ANK1):c.2197-17G>A rs188360816 0.00183
NM_000037.4(ANK1):c.2495G>A (p.Arg832Gln) rs34523608 0.00150
NM_000037.4(ANK1):c.2745G>A (p.Val915=) rs143585080 0.00150
NM_000037.4(ANK1):c.3532+13C>A rs181905023 0.00122
NM_000037.4(ANK1):c.1484A>G (p.Asn495Ser) rs142690258 0.00114
NM_000037.4(ANK1):c.1387G>A (p.Val463Ile) rs140085544 0.00105
NM_000037.4(ANK1):c.2589C>T (p.Pro863=) rs114870847 0.00102
NM_000037.4(ANK1):c.1404+15C>T rs201598401 0.00067
NM_000037.4(ANK1):c.2196+6G>A rs200761553 0.00064
NM_000037.4(ANK1):c.4022C>T (p.Ser1341Leu) rs145562489 0.00063
NM_000037.4(ANK1):c.1337G>C (p.Arg446Thr) rs142010751 0.00038
NM_000037.4(ANK1):c.3668T>C (p.Val1223Ala) rs185516533 0.00033
NM_000037.4(ANK1):c.1203C>T (p.Thr401=) rs145628190 0.00032
NM_000037.4(ANK1):c.3570A>C (p.Gly1190=) rs762382303 0.00032
NM_000037.4(ANK1):c.675C>T (p.Leu225=) rs146507999 0.00026
NM_000037.4(ANK1):c.2097+15C>T rs200206750 0.00023
NM_000037.4(ANK1):c.237C>T (p.Asn79=) rs372696694 0.00001
NM_000037.4(ANK1):c.3115+9G>A rs150850103
NM_000037.4(ANK1):c.4974C>T (p.Asp1658=) rs149859024

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