ClinVar Miner

List of variants studied for spinal muscular atrophy by Mendelics

Included ClinVar conditions (88):
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Total variants: 32
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HGVS dbSNP gnomAD frequency
NM_181503.3(EXOSC8):c.321G>A (p.Gln107=) rs1127446 0.32239
NM_005866.4(SIGMAR1):c.5A>C (p.Gln2Pro) rs1800866 0.17661
NM_213720.3(CHCHD10):c.100C>T (p.Pro34Ser) rs551521196 0.00237
NM_016042.4(EXOSC3):c.238G>T (p.Val80Phe) rs374550999 0.00093
NM_002180.3(IGHMBP2):c.1488C>A (p.Cys496Ter) rs145226920 0.00016
NM_213720.3(CHCHD10):c.239C>T (p.Pro80Leu) rs775332895 0.00016
NM_001003800.2(BICD2):c.1079C>T (p.Ala360Val) rs587777884 0.00003
NM_006736.6(DNAJB2):c.352+1G>A rs756614404 0.00002
NM_001003800.2(BICD2):c.1864C>T (p.Arg622Trp) rs1445290655 0.00001
NM_002180.3(IGHMBP2):c.1183T>C (p.Cys395Arg) rs1347461335 0.00001
NM_002180.3(IGHMBP2):c.1327C>T (p.Arg443Cys) rs751549678 0.00001
NM_000052.7(ATP7A):c.1668_1680del (p.Ile556fs) rs2149090269
NM_000052.7(ATP7A):c.2180G>A (p.Gly727Glu) rs2149095964
NM_000052.7(ATP7A):c.2916+3A>T rs2149100212
NM_000052.7(ATP7A):c.3659-1G>A rs2149110457
NM_000052.7(ATP7A):c.3802-1G>A rs398123135
NM_000052.7(ATP7A):c.437del (p.Leu146fs) rs2149082699
NM_001003800.2(BICD2):c.1993G>T (p.Val665Leu) rs587777885
NM_001077446.4(TSEN34):c.862_865dup (p.Leu289fs) rs1246937494
NM_001376.5(DYNC1H1):c.3157-2A>T rs2141280750
NM_001376.5(DYNC1H1):c.3395G>A (p.Gly1132Glu) rs2141280974
NM_001376.5(DYNC1H1):c.3603G>T (p.Arg1201Ser) rs727505393
NM_001376.5(DYNC1H1):c.752G>A (p.Arg251His) rs794727634
NM_001376.5(DYNC1H1):c.791G>C (p.Arg264Pro) rs713993043
NM_001376.5(DYNC1H1):c.8390G>A (p.Arg2797His) rs2152584603
NM_002047.4(GARS1):c.1002C>G (p.Ile334Met) rs1303447354
NM_002047.4(GARS1):c.647A>G (p.His216Arg) rs768987322
NM_002180.3(IGHMBP2):c.1313dup (p.Thr439fs) rs1566443170
NM_002180.3(IGHMBP2):c.1523C>T (p.Ser508Leu) rs754465226
NM_002180.3(IGHMBP2):c.1632+3del rs2154008712
NM_020631.6(PLEKHG5):c.985-2A>G rs1553174566
NM_213720.3(CHCHD10):c.312C>T (p.Tyr104=) rs9153

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