ClinVar Miner

List of variants in gene ANKRD11 reported by Diagnostic Laboratory, Strasbourg University Hospital

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Gene type:
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Total variants: 15
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HGVS dbSNP gnomAD frequency
NM_013275.6(ANKRD11):c.5150A>T (p.Glu1717Val) rs551558075 0.00003
NM_013275.6(ANKRD11):c.5575T>C (p.Ser1859Pro) rs1318992601 0.00001
NM_013275.6(ANKRD11):c.1677G>A (p.Trp559Ter) rs1411134954
NM_013275.6(ANKRD11):c.1903_1907del (p.Lys635fs) rs886041125
NM_013275.6(ANKRD11):c.2262_2265del (p.Glu755fs) rs2034490973
NM_013275.6(ANKRD11):c.2904del (p.Glu969fs) rs2034440990
NM_013275.6(ANKRD11):c.3084C>A (p.Tyr1028Ter) rs1064793539
NM_013275.6(ANKRD11):c.4067del (p.Ser1356fs) rs2034340511
NM_013275.6(ANKRD11):c.4112C>T (p.Ala1371Val) rs2034337101
NM_013275.6(ANKRD11):c.4206C>G (p.Tyr1402Ter) rs749632782
NM_013275.6(ANKRD11):c.6882_6883del (p.Glu2295fs) rs2033996047
NM_013275.6(ANKRD11):c.6982dup (p.Arg2328fs) rs1555525088
NM_013275.6(ANKRD11):c.7189C>T (p.Gln2397Ter) rs2033955113
NM_013275.6(ANKRD11):c.87+4del rs2036995523
NM_013275.6(ANKRD11):c.998del (p.Asn333fs) rs2034590529

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