ClinVar Miner

List of variants in gene ANK1 reported as benign for familial hemolytic anemia

Included ClinVar conditions (77):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 59
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HGVS dbSNP gnomAD frequency
NM_000037.4(ANK1):c.129+125C>T rs486223 0.98833
NM_000037.4(ANK1):c.*2152T>G rs543817 0.98376
NM_000037.4(ANK1):c.5096+16T>C rs508112 0.97818
NM_000037.4(ANK1):c.5479-3T>C rs515071 0.75703
NM_000037.4(ANK1):c.229-47G>A rs1872877 0.61566
NM_000037.4(ANK1):c.909+36A>G rs7826127 0.38387
NM_000037.4(ANK1):c.315C>T (p.Asn105=) rs2304871 0.23757
NM_000037.4(ANK1):c.5265G>A (p.Val1755=) rs750625 0.21708
NM_000037.4(ANK1):c.2073C>T (p.Gly691=) rs1137177 0.21318
NM_000037.4(ANK1):c.4101C>T (p.Ala1367=) rs7816734 0.18067
NM_000037.4(ANK1):c.1856G>A (p.Arg619His) rs2304877 0.04842
NG_012820.2(ANK1):g.104117T>C rs77173848 0.04675
NM_000037.4(ANK1):c.*1609C>G rs78203311 0.04627
NM_000037.4(ANK1):c.*238T>C rs72638944 0.04617
NM_000037.4(ANK1):c.*1899G>A rs72638943 0.04611
NM_000037.4(ANK1):c.909+7A>G rs17661203 0.04301
NM_000037.4(ANK1):c.3486C>T (p.Ser1162=) rs35964634 0.04182
NM_000037.4(ANK1):c.3973A>G (p.Met1325Val) rs10093583 0.04068
NM_000037.4(ANK1):c.1320G>A (p.Pro440=) rs28533718 0.03824
NM_000037.4(ANK1):c.5395-1147C>G rs112350393 0.03054
NM_000037.4(ANK1):c.*2022G>A rs112447985 0.02108
NM_000037.4(ANK1):c.4385C>T (p.Ala1462Val) rs34664882 0.02105
NM_000037.4(ANK1):c.3327+21C>G rs61207451 0.01947
NM_000037.4(ANK1):c.3224C>T (p.Thr1075Ile) rs35213384 0.01414
NM_000037.4(ANK1):c.4008G>A (p.Pro1336=) rs147536061 0.01340
NM_000037.4(ANK1):c.*1402G>T rs116137861 0.01314
NM_000037.4(ANK1):c.654C>A (p.Asn218Lys) rs61735313 0.01280
NM_000037.4(ANK1):c.2970C>T (p.Ile990=) rs34969689 0.01218
NM_000037.4(ANK1):c.2211C>G (p.Pro737=) rs34194642 0.01217
NM_000037.4(ANK1):c.183G>C (p.Val61=) rs61753680 0.01208
NM_000037.4(ANK1):c.3813G>A (p.Glu1271=) rs16890758 0.01205
NM_000037.4(ANK1):c.2296-20C>T rs73619321 0.01143
NM_000037.4(ANK1):c.1590C>T (p.Ala530=) rs61758865 0.00673
NM_000037.4(ANK1):c.*774A>G rs142696529 0.00636
NM_000037.4(ANK1):c.1999-17C>T rs28571216 0.00543
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.2403G>A (p.Lys801=) rs147130318 0.00376
NM_000037.4(ANK1):c.2735+10G>A rs75296105 0.00374
NM_000037.4(ANK1):c.5097-34C>T rs185434561 0.00261
NM_000037.4(ANK1):c.981C>T (p.Tyr327=) rs61758867 0.00253
NM_000037.4(ANK1):c.2495G>A (p.Arg832Gln) rs34523608 0.00150
NM_000037.4(ANK1):c.5395-1162C>A rs145094714 0.00138
NM_000037.4(ANK1):c.5479-17T>C rs142836307 0.00138
NM_000037.4(ANK1):c.3532+13C>A rs181905023 0.00122
NM_000037.4(ANK1):c.3102C>T (p.Asn1034=) rs145169484 0.00101
NM_000037.4(ANK1):c.1467G>A (p.Leu489=) rs148165519 0.00057
NM_000037.4(ANK1):c.3668T>C (p.Val1223Ala) rs185516533 0.00033
NM_000037.4(ANK1):c.675C>T (p.Leu225=) rs146507999 0.00026
NM_000037.4(ANK1):c.2688C>T (p.Thr896=) rs377333429 0.00004
NM_000037.4(ANK1):c.237C>T (p.Asn79=) rs372696694 0.00001
NM_000037.4(ANK1):c.*36+989dup rs59908561
NM_000037.4(ANK1):c.*385del rs112209933
NM_000037.4(ANK1):c.1624G>A (p.Val542Met)
NM_000037.4(ANK1):c.2913G>C (p.Leu971=) rs504574
NM_000037.4(ANK1):c.3115+9G>A rs150850103
NM_000037.4(ANK1):c.4538-52G>C rs499295
NM_000037.4(ANK1):c.5395-1286C>T
NM_000037.4(ANK1):c.813C>T (p.Asp271=)

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