List of variants in gene SEPSECS reported as uncertain significance for Pontocerebellar hypoplasia type 2D

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 87

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HGVS	dbSNP	gnomAD frequency
NM_016955.4(SEPSECS):c.*3870A>T	rs187861688	0.00175
NM_016955.4(SEPSECS):c.780A>G (p.Ser260=)	rs61747281	0.00120
NM_016955.4(SEPSECS):c.919A>G (p.Ser307Gly)	rs150309842	0.00099
NM_016955.4(SEPSECS):c.*2990G>C	rs555513125	0.00063
NM_016955.4(SEPSECS):c.*610G>A	rs570766273	0.00057
NM_016955.4(SEPSECS):c.1276A>G (p.Thr426Ala)	rs142133435	0.00046
NM_016955.4(SEPSECS):c.*1591G>A	rs751678209	0.00028
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.548-1G>A	rs200041461	0.00014
NM_016955.4(SEPSECS):c.*1614T>C	rs151120379	0.00012
NM_016955.4(SEPSECS):c.*328A>T	rs796305783	0.00012
NM_016955.4(SEPSECS):c.1027-7G>A	rs374407543	0.00011
NM_016955.4(SEPSECS):c.388+10G>A	rs376797370	0.00011
NM_016955.4(SEPSECS):c.389-8A>C	rs368514215	0.00011
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_016955.4(SEPSECS):c.1291T>G (p.Cys431Gly)	rs572892329	0.00009
NM_016955.4(SEPSECS):c.584G>A (p.Gly195Asp)	rs139718374	0.00009
NM_016955.4(SEPSECS):c.960A>G (p.Leu320=)	rs141199115	0.00009
NM_016955.4(SEPSECS):c.*1648G>A	rs117876262	0.00008
NM_016955.4(SEPSECS):c.1027-9T>C	rs368335778	0.00008
NM_016955.4(SEPSECS):c.1212-10C>G	rs375688949	0.00008
NM_016955.4(SEPSECS):c.*6G>A	rs753956739	0.00007
NM_016955.4(SEPSECS):c.1320C>T (p.Ile440=)	rs375534729	0.00007
NM_016955.4(SEPSECS):c.*2645A>G	rs143152362	0.00006
NM_016955.4(SEPSECS):c.388+3A>G	rs757504141	0.00006
NM_016955.4(SEPSECS):c.634C>G (p.Leu212Val)	rs202043298	0.00006
NM_016955.4(SEPSECS):c.*1574T>C	rs886059349	0.00004
NM_016955.4(SEPSECS):c.*1620C>T	rs886059348	0.00004
NM_016955.4(SEPSECS):c.1351A>G (p.Ile451Val)	rs764436131	0.00004
NM_016955.4(SEPSECS):c.846G>A (p.Leu282=)	rs146539065	0.00004
NM_016955.4(SEPSECS):c.1250A>G (p.Tyr417Cys)	rs762180254	0.00003
NM_016955.4(SEPSECS):c.1393C>T (p.Arg465Ter)	rs773969315	0.00003
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.1390G>T (p.Glu464Ter)	rs747732980	0.00002
NM_016955.4(SEPSECS):c.389-10T>C	rs777854893	0.00002
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.1274A>G (p.His425Arg)	rs1577598082	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_016955.4(SEPSECS):c.256C>T (p.Arg86Cys)	rs373439857	0.00001
NM_016955.4(SEPSECS):c.264T>A (p.His88Gln)	rs756402081	0.00001
NM_016955.4(SEPSECS):c.389G>A (p.Gly130Asp)	rs1004182733	0.00001
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.1000T>C (p.Tyr334His)	rs1029077401
NM_016955.4(SEPSECS):c.1022G>A (p.Arg341Lys)	rs1064796736
NM_016955.4(SEPSECS):c.1067C>T (p.Ser356Leu)
NM_016955.4(SEPSECS):c.1120+8C>A	rs1728415390
NM_016955.4(SEPSECS):c.1120G>A (p.Ala374Thr)	rs1261267969
NM_016955.4(SEPSECS):c.1178C>T (p.Ser393Leu)
NM_016955.4(SEPSECS):c.1181T>C (p.Met394Thr)	rs527970470
NM_016955.4(SEPSECS):c.1222C>T (p.Leu408Phe)	rs752082832
NM_016955.4(SEPSECS):c.1257C>G (p.Phe419Leu)	rs751823145
NM_016955.4(SEPSECS):c.1453G>A (p.Ala485Thr)	rs1233729947
NM_016955.4(SEPSECS):c.1461A>C (p.Lys487Asn)	rs1728243877
NM_016955.4(SEPSECS):c.181A>G (p.Met61Val)	rs910702708
NM_016955.4(SEPSECS):c.238G>A (p.Ala80Thr)
NM_016955.4(SEPSECS):c.437T>C (p.Met146Thr)
NM_016955.4(SEPSECS):c.467G>A (p.Arg156Gln)	rs776438003
NM_016955.4(SEPSECS):c.491A>G (p.Tyr164Cys)	rs768840152
NM_016955.4(SEPSECS):c.499T>C (p.Trp167Arg)	rs1194507895
NM_016955.4(SEPSECS):c.804+4A>T	rs1479554001
NM_016955.4(SEPSECS):c.812G>T (p.Arg271Leu)	rs573577287
NM_016955.4(SEPSECS):c.823A>G (p.Ile275Val)	rs746824533

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