ClinVar Miner

List of variants studied for anterior horn disorder by Institute of Human Genetics, Cologne University

Included ClinVar conditions (149):
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ClinVar version:
Total variants: 21
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HGVS dbSNP gnomAD frequency
NM_000454.5(SOD1):c.272A>C (p.Asp91Ala) rs80265967 0.00126
NM_016042.4(EXOSC3):c.395A>C (p.Asp132Ala) rs141138948 0.00048
NM_001365951.3(KIF1B):c.1771G>A (p.Gly591Arg) rs145266399 0.00024
NM_003119.4(SPG7):c.233T>A (p.Leu78Ter) rs121918358 0.00014
NM_002180.3(IGHMBP2):c.1738G>A (p.Val580Ile) rs137852667 0.00004
NM_007126.5(VCP):c.572G>A (p.Arg191Gln) rs121909334 0.00002
NM_015046.7(SETX):c.895C>T (p.Arg299Cys) rs777182592 0.00002
NM_006329.4(FBLN5):c.605G>T (p.Gly202Val) rs137901671 0.00001
NM_016955.4(SEPSECS):c.715G>A (p.Ala239Thr) rs267607035 0.00001
NM_000052.7(ATP7A):c.2972C>A (p.Ala991Asp) rs1557236729
NM_000344.4(SMN1):c.379T>C (p.Tyr127His) rs1749441633
NM_000454.5(SOD1):c.112G>C (p.Gly38Arg) rs121912431
NM_001003800.2(BICD2):c.320C>T (p.Ser107Leu) rs398123028
NM_001540.5(HSPB1):c.415A>G (p.Thr139Ala) rs1554614648
NM_002047.4(GARS1):c.1415A>G (p.His472Arg) rs1060502838
NM_004960.4(FUS):c.1564A>G (p.Arg522Gly) rs1555509693
NM_015046.7(SETX):c.7711C>T (p.Pro2571Ser) rs1554801479
NM_016955.4(SEPSECS):c.812G>T (p.Arg271Leu) rs573577287
NM_020631.6(PLEKHG5):c.1438A>C (p.Met480Leu) rs1441260635
NM_020631.6(PLEKHG5):c.58del (p.Arg20fs) rs1553175760
NM_021625.5(TRPV4):c.806G>A (p.Arg269His) rs267607144

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