ClinVar Miner

List of variants studied for anterior horn disorder by Institute of Human Genetics, University of Leipzig Medical Center

Included ClinVar conditions (149):
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Total variants: 25
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HGVS dbSNP gnomAD frequency
NM_207346.3(TSEN54):c.919G>T (p.Ala307Ser) rs113994152 0.00092
NM_016042.4(EXOSC3):c.395A>C (p.Asp132Ala) rs141138948 0.00048
NM_000052.7(ATP7A):c.4136C>T (p.Pro1379Leu) rs1557238990 0.00001
NM_001540.5(HSPB1):c.253G>T (p.Val85Phe) rs773758650 0.00001
NM_015046.7(SETX):c.2788A>G (p.Ser930Gly) rs770694223 0.00001
NM_020919.4(ALS2):c.4626+1G>A rs1234882220 0.00001
NM_052965.4(TSEN15):c.346C>T (p.His116Tyr) rs879253780 0.00001
NM_001003800.2(BICD2):c.2132T>C (p.Leu711Pro)
NM_001003800.2(BICD2):c.2200_2202del (p.Lys734del) rs1853349816
NM_001145809.2(MYH14):c.3457G>A (p.Ala1153Thr) rs2123394094
NM_001376.5(DYNC1H1):c.3170A>G (p.Tyr1057Cys) rs2048038246
NM_001540.5(HSPB1):c.379C>T (p.Arg127Trp) rs29001571
NM_001540.5(HSPB1):c.510del (p.Lys171fs) rs1803069940
NM_003900.5(SQSTM1):c.-27C>T rs781131232
NM_003900.5(SQSTM1):c.1128del (p.Gly376_Leu377insTer) rs1758359961
NM_003900.5(SQSTM1):c.711GAA[1] (p.Lys238del) rs796052214
NM_013254.4(TBK1):c.1739A>G (p.Glu580Gly) rs2040925135
NM_016955.4(SEPSECS):c.238G>A (p.Ala80Thr)
NM_016955.4(SEPSECS):c.437T>C (p.Met146Thr)
NM_018834.6(MATR3):c.254C>G (p.Ser85Cys) rs121434591
NM_021076.4(NEFH):c.1376_1379del (p.Glu459fs) rs1404118739
NM_021815.5(SLC5A7):c.1503_1506del (p.Phe502fs)
NM_021815.5(SLC5A7):c.178+1G>C rs1677325509
NM_205836.3(FBXO38):c.1313A>G (p.His438Arg) rs2113584557
NM_213720.3(CHCHD10):c.349A>T (p.Ser117Cys) rs931085449

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