ClinVar Miner

List of variants reported as pathogenic for spinal muscular atrophy by OMIM

Included ClinVar conditions (89):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 122
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HGVS dbSNP gnomAD frequency
NM_000344.4(SMN1):c.5C>G (p.Ala2Gly) rs1554066397 0.00571
NM_181503.3(EXOSC8):c.815G>C (p.Ser272Thr) rs36027220 0.00400
NM_016042.4(EXOSC3):c.238G>T (p.Val80Phe) rs374550999 0.00093
NM_207346.3(TSEN54):c.919G>T (p.Ala307Ser) rs113994152 0.00092
NM_006308.3(HSPB3):c.21G>T (p.Arg7Ser) rs139382018 0.00058
NM_016042.4(EXOSC3):c.395A>C (p.Asp132Ala) rs141138948 0.00048
NM_003384.3(VRK1):c.1072C>T (p.Arg358Ter) rs137853063 0.00006
NM_002180.3(IGHMBP2):c.1738G>A (p.Val580Ile) rs137852667 0.00004
NM_177924.5(ASAH1):c.125C>T (p.Thr42Met) rs145873635 0.00004
NM_177924.5(ASAH1):c.456A>C (p.Lys152Asn) rs200455852 0.00004
NM_001122955.4(BSCL2):c.455A>G (p.Asn152Ser) rs137852972 0.00002
NM_006736.6(DNAJB2):c.352+1G>A rs756614404 0.00002
NM_007046.4(EMILIN1):c.64G>A (p.Ala22Thr) rs753862645 0.00002
NM_016042.4(EXOSC3):c.92G>C (p.Gly31Ala) rs387907196 0.00002
NM_001003800.2(BICD2):c.2108C>T (p.Thr703Met) rs371707778 0.00001
NM_001122955.4(BSCL2):c.461C>T (p.Ser154Leu) rs137852973 0.00001
NM_002047.4(GARS1):c.1660G>A (p.Asp554Asn) rs137852647 0.00001
NM_002180.3(IGHMBP2):c.1540G>A (p.Glu514Lys) rs137852665 0.00001
NM_002180.3(IGHMBP2):c.2611+1G>T rs786205090 0.00001
NM_002180.3(IGHMBP2):c.707T>G (p.Leu236Ter) rs137852669 0.00001
NM_003384.3(VRK1):c.397C>T (p.Arg133Cys) rs387906830 0.00001
NM_016042.4(EXOSC3):c.415G>C (p.Ala139Pro) rs387907195 0.00001
NM_016955.4(SEPSECS):c.715G>A (p.Ala239Thr) rs267607035 0.00001
NM_021625.5(TRPV4):c.805C>T (p.Arg269Cys) rs267607146 0.00001
NM_021625.5(TRPV4):c.943C>T (p.Arg315Trp) rs267607143 0.00001
NM_025265.4(TSEN2):c.926A>G (p.Tyr309Cys) rs113994149 0.00001
NM_052965.4(TSEN15):c.346C>T (p.His116Tyr) rs879253780 0.00001
NC_000005.10:g.(?_70924941)_(70966375_?)del
NC_000005.9:g.70247853_70247854ins[N[1090];70247841_70247853]
NC_000008.11:g.(?_18051554)_(18107050_?)del
NC_000011.10:g.(68906754_68906786)_(68925257_68925289)del
NG_008691.1:g.(32498_32055)_(33073_?)del
NM_000052.7(ATP7A):c.2981C>T (p.Thr994Ile) rs267606673
NM_000052.7(ATP7A):c.4156C>T (p.Pro1386Ser) rs267606672
NM_000344.4(SMN1):c.131A>T (p.Asp44Val) rs104893931
NM_000344.4(SMN1):c.283G>C (p.Gly95Arg) rs104893927
NM_000344.4(SMN1):c.305G>A (p.Trp102Ter) rs77804083
NM_000344.4(SMN1):c.332C>G (p.Ala111Gly) rs104893935
NM_000344.4(SMN1):c.346A>T (p.Ile116Phe) rs104893933
NM_000344.4(SMN1):c.388T>C (p.Tyr130His) rs397514518
NM_000344.4(SMN1):c.389A>G (p.Tyr130Cys) rs397514517
NM_000344.4(SMN1):c.399_402del (p.Glu134fs) rs77668214
NM_000344.4(SMN1):c.406C>G (p.Gln136Glu) rs104893934
NM_000344.4(SMN1):c.439_443del (p.Glu147fs) rs75991011
NM_000344.4(SMN1):c.770_780dup (p.Gly261fs) rs1561500847
NM_000344.4(SMN1):c.784A>G (p.Ser262Gly) rs104893932
NM_000344.4(SMN1):c.785G>T (p.Ser262Ile) rs1554066659
NM_000344.4(SMN1):c.815A>G (p.Tyr272Cys) rs104893922
NM_000344.4(SMN1):c.821C>T (p.Thr274Ile) rs1554066666
NM_000344.4(SMN1):c.834+6T>G rs2112814388
NM_000344.4(SMN1):c.836G>T (p.Gly279Val) rs76163360
NM_000344.4(SMN1):c.88G>A (p.Asp30Asn) rs104893930
NM_001003800.2(BICD2):c.1502G>C (p.Arg501Pro) rs398123032
NM_001003800.2(BICD2):c.1523A>C (p.Lys508Thr) rs398123031
NM_001003800.2(BICD2):c.1636_1638del (p.Asn546del) rs1064795760
NM_001003800.2(BICD2):c.2080C>T (p.Arg694Cys) rs797045412
NM_001003800.2(BICD2):c.2321A>G (p.Glu774Gly) rs398123030
NM_001003800.2(BICD2):c.320C>T (p.Ser107Leu) rs398123028
NM_001003800.2(BICD2):c.563A>C (p.Asn188Thr) rs398123029
NM_001003800.2(BICD2):c.581A>G (p.Gln194Arg) rs1564061982
NM_001077446.4(TSEN34):c.172C>T (p.Arg58Trp) rs113994150
NM_001122955.4(BSCL2):c.461C>G (p.Ser154Trp) rs137852973
NM_001130438.3(SPTAN1):c.415C>T (p.Arg139Ter) rs1851109762
NM_001130438.3(SPTAN1):c.4615C>T (p.Gln1539Ter)
NM_001130438.3(SPTAN1):c.6367del (p.Val2123fs)
NM_001130438.3(SPTAN1):c.6781C>T (p.Arg2261Ter) rs1859856446
NM_001371279.1(REEP1):c.304-2A>G rs387907242
NM_001376.5(DYNC1H1):c.1750A>C (p.Ile584Leu) rs387906741
NM_001376.5(DYNC1H1):c.2011A>G (p.Lys671Glu) rs387906742
NM_001376.5(DYNC1H1):c.2909A>G (p.Tyr970Cys) rs387906743
NM_001376.5(DYNC1H1):c.917A>G (p.His306Arg) rs387906738
NM_001540.5(HSPB1):c.295C>A (p.Leu99Met) rs121909113
NM_001540.5(HSPB1):c.379C>T (p.Arg127Trp) rs29001571
NM_001540.5(HSPB1):c.404C>T (p.Ser135Phe) rs28939680
NM_001540.5(HSPB1):c.418C>G (p.Arg140Gly) rs121909112
NM_001540.5(HSPB1):c.452C>T (p.Thr151Ile) rs28937568
NM_001540.5(HSPB1):c.544C>T (p.Pro182Ser) rs104894020
NM_001540.5(HSPB1):c.545C>T (p.Pro182Leu) rs28937569
NM_002047.4(GARS1):c.1415A>G (p.His472Arg) rs1060502838
NM_002047.4(GARS1):c.1738G>C (p.Gly580Arg) rs137852646
NM_002047.4(GARS1):c.374A>G (p.Glu125Gly) rs137852645
NM_002047.4(GARS1):c.548T>C (p.Leu183Pro) rs137852644
NM_002047.4(GARS1):c.647A>G (p.His216Arg) rs768987322
NM_002180.3(IGHMBP2):c.1107C>G (p.Phe369Leu) rs137852670
NM_002180.3(IGHMBP2):c.121C>T (p.Gln41Ter) rs137852668
NM_002180.3(IGHMBP2):c.638A>G (p.His213Arg) rs137852666
NM_002180.3(IGHMBP2):c.675del (p.Glu226fs) rs786205089
NM_003334.4(UBA1):c.1617G>T (p.Met539Ile) rs80356545
NM_003334.4(UBA1):c.1639A>G (p.Ser547Gly) rs80356546
NM_003334.4(UBA1):c.1731C>T (p.Asn577=) rs80356547
NM_004082.5(DCTN1):c.175G>A (p.Gly59Ser) rs121909342
NM_004184.4(WARS1):c.413T>A (p.Phe138Tyr) rs1895599490
NM_004184.4(WARS1):c.770A>G (p.His257Arg) rs770003315
NM_004184.4(WARS1):c.941A>G (p.Asp314Gly) rs1894240526
NM_004281.4(BAG3):c.1513_1514insGGAC (p.Val505fs)
NM_004738.5(VAPB):c.166C>T (p.Pro56Ser) rs74315431
NM_005866.4(SIGMAR1):c.151+1G>T rs796065352
NM_006736.6(DNAJB2):c.14A>G (p.Tyr5Cys) rs730882140
NM_006736.6(DNAJB2):c.229+1G>A rs730882139
NM_007046.4(EMILIN1):c.748C>T (p.Arg250Cys)
NM_014365.3(HSPB8):c.421A>G (p.Lys141Glu) rs104894351
NM_014365.3(HSPB8):c.423G>C (p.Lys141Asn) rs104894345
NM_016042.4(EXOSC3):c.294_303del (p.Val99fs) rs672601331
NM_016042.4(EXOSC3):c.571G>T (p.Gly191Cys) rs730882145
NM_016042.4(EXOSC3):c.712T>C (p.Trp238Arg) rs672601332
NM_016955.4(SEPSECS):c.1001A>G (p.Tyr334Cys) rs267607036
NM_016955.4(SEPSECS):c.1466A>T (p.Asp489Val) rs773876739
NM_020631.6(PLEKHG5):c.1940T>C (p.Phe647Ser) rs63750315
NM_021625.5(TRPV4):c.557G>A (p.Arg186Gln) rs397514494
NM_021625.5(TRPV4):c.694C>T (p.Arg232Cys) rs387906904
NM_021625.5(TRPV4):c.806G>A (p.Arg269His) rs267607144
NM_021625.5(TRPV4):c.946C>T (p.Arg316Cys) rs267607145
NM_021815.5(SLC5A7):c.1497del (p.Lys499fs) rs1558872865
NM_025265.4(TSEN2):c.691C>T (p.Gln231Ter) rs730880294
NM_025265.4(TSEN2):c.934G>A (p.Gly312Arg) rs886037739
NM_025265.4(TSEN2):c.960+1_960+5del rs886037738
NM_052965.4(TSEN15):c.226T>G (p.Trp76Gly) rs730882223
NM_052965.4(TSEN15):c.455A>G (p.Tyr152Cys) rs879253779
NM_177924.5(ASAH1):c.850G>T (p.Gly284Ter) rs794729663
NM_181503.3(EXOSC8):c.5C>T (p.Ala2Val) rs606231285
NM_205836.3(FBXO38):c.616T>C (p.Cys206Arg) rs398122838
NM_213720.3(CHCHD10):c.197G>T (p.Gly66Val) rs730880031

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