ClinVar Miner

List of variants in gene ANXA11 studied for hereditary skeletal muscle disorder

Included ClinVar conditions (587):
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Gene type:
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Total variants: 27
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HGVS dbSNP gnomAD frequency
NM_145868.2(ANXA11):c.858+45G>A rs9421228 0.50220
NM_145868.2(ANXA11):c.858+55G>A rs2573348 0.43337
NM_145868.2(ANXA11):c.1335+15T>C rs1079242 0.42648
NM_145868.2(ANXA11):c.859-62C>T rs2236557 0.36135
NM_145868.2(ANXA11):c.1030-44A>C rs2236558 0.34951
NM_145868.2(ANXA11):c.858+42C>T rs3000941 0.21367
NM_145868.2(ANXA11):c.1087-26A>G rs2304410 0.12544
NM_145868.2(ANXA11):c.950-87C>G rs34148644 0.10893
NM_145868.2(ANXA11):c.55+54G>A rs75804987 0.10881
NM_145868.2(ANXA11):c.672T>C (p.Ile224=) rs2228427 0.10871
NM_145868.2(ANXA11):c.650-10C>G rs34332933 0.10863
NM_145868.2(ANXA11):c.171+95A>G rs2789689 0.06581
NM_145868.2(ANXA11):c.572G>A (p.Arg191Gln) rs2229554 0.04181
NM_145868.2(ANXA11):c.390C>T (p.Gly130=) rs35694404 0.03162
NM_145868.2(ANXA11):c.1458+77C>T rs12775374 0.02483
NM_145868.2(ANXA11):c.1335+94A>G rs12767142 0.02481
NM_145868.2(ANXA11):c.171+19C>T rs12269637 0.01660
NM_145868.2(ANXA11):c.456C>T (p.Tyr152=) rs34003188 0.01293
NM_145868.2(ANXA11):c.-8-55G>A rs11201972
NM_145868.2(ANXA11):c.1089G>A (p.Glu363=)
NM_145868.2(ANXA11):c.118G>T (p.Asp40Tyr) rs368751524
NM_145868.2(ANXA11):c.118_119delinsAT (p.Asp40Ile)
NM_145868.2(ANXA11):c.688C>T (p.Arg230Cys) rs1049550
NM_145868.2(ANXA11):c.745-30del rs61537094
NM_145868.2(ANXA11):c.858+42CG[2] rs746498821
NM_145868.2(ANXA11):c.858+47G>A rs75344562
NM_145868.2(ANXA11):c.859-60C>G rs12762098

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