ClinVar Miner

List of variants reported as uncertain significance for bulbospinal muscular atrophy by Illumina Laboratory Services, Illumina

Included ClinVar conditions (12):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 99
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HGVS dbSNP gnomAD frequency
NM_016955.4(SEPSECS):c.*3870A>T rs187861688 0.00175
NM_016042.4(EXOSC3):c.*555A>C rs188744146 0.00133
NM_016955.4(SEPSECS):c.780A>G (p.Ser260=) rs61747281 0.00120
NM_016042.4(EXOSC3):c.328G>A (p.Val110Ile) rs138169215 0.00077
NM_016955.4(SEPSECS):c.*610G>A rs570766273 0.00073
NM_003384.3(VRK1):c.1020C>T (p.Asp340=) rs147853760 0.00066
NM_016955.4(SEPSECS):c.*2990G>C rs555513125 0.00063
NM_003384.3(VRK1):c.1021C>T (p.Leu341Phe) rs139734064 0.00059
NM_003384.3(VRK1):c.858G>T (p.Met286Ile) rs139476915 0.00051
NM_016042.4(EXOSC3):c.430T>C (p.Leu144=) rs138085418 0.00047
NM_016955.4(SEPSECS):c.1276A>G (p.Thr426Ala) rs142133435 0.00046
NM_016042.4(EXOSC3):c.*954G>A rs530895640 0.00039
NM_016042.4(EXOSC3):c.*795A>G rs558579097 0.00038
NM_016042.4(EXOSC3):c.52C>T (p.Arg18Cys) rs147135294 0.00038
NM_016042.4(EXOSC3):c.53G>C (p.Arg18Pro) rs145677716 0.00038
NM_016042.4(EXOSC3):c.-11T>C rs373191549 0.00033
NM_003384.3(VRK1):c.901A>G (p.Lys301Glu) rs149661915 0.00031
NM_016955.4(SEPSECS):c.*1591G>A rs751678209 0.00028
NM_016042.4(EXOSC3):c.*847T>A rs566642894 0.00022
NM_016042.4(EXOSC3):c.166A>C (p.Asn56His) rs148348866 0.00022
NM_016955.4(SEPSECS):c.*253A>G rs75428345 0.00022
NM_016955.4(SEPSECS):c.*3234T>A rs551637494 0.00019
NM_016955.4(SEPSECS):c.*1122C>T rs770577255 0.00014
NM_016955.4(SEPSECS):c.*1614T>C rs151120379 0.00012
NM_016955.4(SEPSECS):c.*328A>T rs796305783 0.00012
NM_016042.4(EXOSC3):c.*402C>T rs567641975 0.00011
NM_016955.4(SEPSECS):c.1027-7G>A rs374407543 0.00011
NM_016955.4(SEPSECS):c.389-8A>C rs368514215 0.00011
NM_003384.3(VRK1):c.161-14A>G rs375176918 0.00010
NM_016042.4(EXOSC3):c.*63T>G rs753180747 0.00010
NM_016955.4(SEPSECS):c.*1637G>A rs781169592 0.00009
NM_016955.4(SEPSECS):c.*1727G>A rs886059345 0.00009
NM_016955.4(SEPSECS):c.*2179T>C rs886059344 0.00009
NM_016042.4(EXOSC3):c.*611A>G rs939514834 0.00008
NM_016955.4(SEPSECS):c.*1648G>A rs117876262 0.00008
NM_003384.3(VRK1):c.*107A>G rs375987917 0.00006
NM_003384.3(VRK1):c.161-3C>T rs746546400 0.00006
NM_016955.4(SEPSECS):c.*2645A>G rs143152362 0.00006
NM_016955.4(SEPSECS):c.634C>G (p.Leu212Val) rs202043298 0.00006
NM_003384.3(VRK1):c.-11C>T rs1055946372 0.00004
NM_016955.4(SEPSECS):c.*1574T>C rs886059349 0.00004
NM_016955.4(SEPSECS):c.*1620C>T rs886059348 0.00004
NM_003384.3(VRK1):c.1069-9A>G rs767585930 0.00003
NM_003384.3(VRK1):c.1118C>T (p.Thr373Met) rs369917766 0.00003
NM_016955.4(SEPSECS):c.1393C>T (p.Arg465Ter) rs773969315 0.00003
NM_016042.4(EXOSC3):c.*194G>C rs886063933 0.00002
NM_016042.4(EXOSC3):c.324+15C>T rs775818894 0.00002
NM_016955.4(SEPSECS):c.*112T>C rs886059353 0.00002
NM_016955.4(SEPSECS):c.*1659C>A rs1356086552 0.00002
NM_016955.4(SEPSECS):c.*2250A>G rs886059343 0.00002
NM_016955.4(SEPSECS):c.*327G>A rs1179436290 0.00002
NM_016955.4(SEPSECS):c.389-10T>C rs777854893 0.00002
NM_003384.3(VRK1):c.*281G>A rs1889257279 0.00001
NM_003384.3(VRK1):c.*302T>C rs1294884447 0.00001
NM_003384.3(VRK1):c.828T>C (p.Ile276=) rs1334577291 0.00001
NM_016042.4(EXOSC3):c.*312T>G rs1044154281 0.00001
NM_016042.4(EXOSC3):c.325-6T>C rs375827861 0.00001
NM_016955.4(SEPSECS):c.*1008T>C rs375166577 0.00001
NM_016955.4(SEPSECS):c.*2921A>G rs1407421050 0.00001
NM_016955.4(SEPSECS):c.*354C>T rs572862359 0.00001
NM_016955.4(SEPSECS):c.1326G>A (p.Met442Ile) rs753701192 0.00001
NM_016955.4(SEPSECS):c.1505G>A (p.Ter502=) rs921485863 0.00001
NM_003384.3(VRK1):c.*104A>G rs1889251007
NM_003384.3(VRK1):c.*171C>A rs1889253340
NM_003384.3(VRK1):c.*211A>G rs886050949
NM_003384.3(VRK1):c.*338A>G rs1889259011
NM_003384.3(VRK1):c.1174_1177del (p.Lys392fs) rs749258908
NM_003384.3(VRK1):c.374+11G>A rs937625087
NM_003384.3(VRK1):c.882C>G (p.Asn294Lys) rs541660707
NM_016042.4(EXOSC3):c.*242A>C rs1828556271
NM_016042.4(EXOSC3):c.*354C>A rs530037792
NM_016042.4(EXOSC3):c.*354C>G rs530037792
NM_016042.4(EXOSC3):c.*419A>G rs1828546518
NM_016042.4(EXOSC3):c.*582A>C rs886063932
NM_016042.4(EXOSC3):c.*812T>G rs886063931
NM_016042.4(EXOSC3):c.13G>T (p.Ala5Ser) rs549030188
NM_016042.4(EXOSC3):c.361G>A (p.Val121Met) rs145622193
NM_016042.4(EXOSC3):c.37G>A (p.Ala13Thr) rs758230758
NM_016042.4(EXOSC3):c.42C>T (p.Gly14=) rs1828679645
NM_016042.4(EXOSC3):c.709A>C (p.Ile237Leu) rs140199968
NM_016955.4(SEPSECS):c.*1031G>A rs559066856
NM_016955.4(SEPSECS):c.*1622T>C rs886059347
NM_016955.4(SEPSECS):c.*1635G>A rs886059346
NM_016955.4(SEPSECS):c.*2300A>G rs184832870
NM_016955.4(SEPSECS):c.*2480T>G rs966419399
NM_016955.4(SEPSECS):c.*2618C>A rs1728115319
NM_016955.4(SEPSECS):c.*2708G>A rs886059342
NM_016955.4(SEPSECS):c.*271G>A rs544559197
NM_016955.4(SEPSECS):c.*2871T>C rs1728102688
NM_016955.4(SEPSECS):c.*2916A>G rs1728100643
NM_016955.4(SEPSECS):c.*3082A>G rs886059341
NM_016955.4(SEPSECS):c.*3134C>A rs886059340
NM_016955.4(SEPSECS):c.*352A>G rs1728221965
NM_016955.4(SEPSECS):c.*420G>C rs886059352
NM_016955.4(SEPSECS):c.*470T>G rs886059351
NM_016955.4(SEPSECS):c.*612G>T rs886059350
NM_016955.4(SEPSECS):c.1120+8C>A rs1728415390
NM_016955.4(SEPSECS):c.1181T>C (p.Met394Thr) rs527970470
NM_016955.4(SEPSECS):c.1257C>G (p.Phe419Leu) rs751823145

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