ClinVar Miner

List of variants in gene ANKRD11 reported by Centre de Biologie Pathologie Génétique, Centre Hospitalier Universitaire de Lille

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Gene type:
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Total variants: 19
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HGVS dbSNP gnomAD frequency
NM_013275.6(ANKRD11):c.6065C>T (p.Pro2022Leu) rs373218212 0.00051
NM_013275.6(ANKRD11):c.3437C>T (p.Thr1146Met) rs150325340 0.00024
NM_013275.6(ANKRD11):c.3743C>T (p.Ala1248Val) rs752060365 0.00007
NM_013275.6(ANKRD11):c.6095C>T (p.Pro2032Leu) rs746355740 0.00006
NM_013275.6(ANKRD11):c.3812C>T (p.Ser1271Leu) rs767520089 0.00001
NM_001256182:c.7545delG
NM_013275.6(ANKRD11):c.1801C>T (p.Arg601Ter) rs772229371
NM_013275.6(ANKRD11):c.1903_1907del (p.Lys635fs) rs886041125
NM_013275.6(ANKRD11):c.2618_2619del (p.Val873fs) rs2034464059
NM_013275.6(ANKRD11):c.3932G>A (p.Arg1311Gln) rs534628110
NM_013275.6(ANKRD11):c.4022C>T (p.Pro1341Leu) rs1456520981
NM_013275.6(ANKRD11):c.4112_4129del (p.Ala1371_Lys1376del) rs754339551
NM_013275.6(ANKRD11):c.4434C>G (p.Asp1478Glu) rs1239629602
NM_013275.6(ANKRD11):c.5160C>G (p.His1720Gln) rs1035902808
NM_013275.6(ANKRD11):c.5323G>T (p.Ala1775Ser) rs559618415
NM_013275.6(ANKRD11):c.5504del (p.Leu1835fs) rs1057519399
NM_013275.6(ANKRD11):c.6212C>G (p.Ser2071Ter) rs763407068
NM_013275.6(ANKRD11):c.7103_7106del (p.Arg2368fs) rs2033967776
NM_013275.6(ANKRD11):c.7751C>A (p.Ala2584Asp) rs1555521799

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