ClinVar Miner

List of variants in gene ANKRD11 reported as pathogenic for Inborn genetic diseases

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Gene type:
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Total variants: 44
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HGVS dbSNP gnomAD frequency
NM_013275.6(ANKRD11):c.1355del (p.Asn452fs) rs1597465118
NM_013275.6(ANKRD11):c.1381_1382del (p.Glu461fs) rs1555529734
NM_013275.6(ANKRD11):c.1381_1384del (p.Glu461fs) rs1597464953
NM_013275.6(ANKRD11):c.1389del (p.Gly464fs) rs1555529726
NM_013275.6(ANKRD11):c.1462_1463del (p.Ser488fs) rs1555529645
NM_013275.6(ANKRD11):c.1623_1630del (p.His542fs) rs1555529572
NM_013275.6(ANKRD11):c.1903_1907del (p.Lys635fs) rs886041125
NM_013275.6(ANKRD11):c.2130G>A (p.Trp710Ter) rs1555529297
NM_013275.6(ANKRD11):c.2197C>T (p.Arg733Ter) rs886041791
NM_013275.6(ANKRD11):c.226G>A (p.Glu76Lys) rs1555535454
NM_013275.6(ANKRD11):c.2398_2401del (p.Glu800fs) rs797045027
NM_013275.6(ANKRD11):c.2408_2412del (p.Lys803fs) rs886039902
NM_013275.6(ANKRD11):c.2494del (p.Ser832fs) rs1555529052
NM_013275.6(ANKRD11):c.2518del (p.Arg840fs) rs2034470669
NM_013275.6(ANKRD11):c.2611_2621del (p.Asp871fs)
NM_013275.6(ANKRD11):c.2750_2751del (p.Asn916_Ser917insTer)
NM_013275.6(ANKRD11):c.3019C>T (p.Arg1007Ter) rs752918694
NM_013275.6(ANKRD11):c.3138T>A (p.Cys1046Ter) rs1567574466
NM_013275.6(ANKRD11):c.3208_3209del (p.His1070fs) rs2034416782
NM_013275.6(ANKRD11):c.3244C>T (p.Gln1082Ter) rs2034413419
NM_013275.6(ANKRD11):c.3334dup (p.Ser1112fs) rs1555528558
NM_013275.6(ANKRD11):c.3702_3705del (p.Lys1235fs) rs1555528357
NM_013275.6(ANKRD11):c.3770_3771del (p.Lys1257fs) rs886039477
NM_013275.6(ANKRD11):c.4091_4092del (p.Glu1364fs) rs2034338452
NM_013275.6(ANKRD11):c.4114G>T (p.Glu1372Ter) rs146474985
NM_013275.6(ANKRD11):c.4140C>G (p.Tyr1380Ter) rs1555528040
NM_013275.6(ANKRD11):c.4189del (p.Leu1397fs)
NM_013275.6(ANKRD11):c.4384dup (p.Arg1462fs) rs886041521
NM_013275.6(ANKRD11):c.4389_4390del (p.Lys1464fs) rs1597451815
NM_013275.6(ANKRD11):c.4585A>T (p.Lys1529Ter)
NM_013275.6(ANKRD11):c.4619_4620del (p.Lys1540fs)
NM_013275.6(ANKRD11):c.4902del (p.Leu1635fs) rs1555527497
NM_013275.6(ANKRD11):c.5537del (p.Leu1846fs) rs1555526796
NM_013275.6(ANKRD11):c.5739_5766del (p.Glu1915fs)
NM_013275.6(ANKRD11):c.6792dup (p.Ala2265fs) rs878855327
NM_013275.6(ANKRD11):c.6847C>T (p.Gln2283Ter) rs1221781038
NM_013275.6(ANKRD11):c.6911_6936del (p.Glu2304fs)
NM_013275.6(ANKRD11):c.7244_7247del (p.Leu2415fs)
NM_013275.6(ANKRD11):c.7303del (p.Ala2435fs) rs1555524870
NM_013275.6(ANKRD11):c.7327C>T (p.Gln2443Ter) rs1555524861
NM_013275.6(ANKRD11):c.7535G>A (p.Arg2512Gln) rs2033535934
NM_013275.6(ANKRD11):c.7569+1G>A rs797044890
NM_013275.6(ANKRD11):c.7606C>T (p.Arg2536Trp) rs2151701893
NM_013275.6(ANKRD11):c.7825C>T (p.Gln2609Ter) rs797044900

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