ClinVar Miner

List of variants in gene SEPSECS studied for Pontocerebellar hypoplasia type 2D

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Total variants: 128
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HGVS dbSNP gnomAD frequency
NM_016955.4(SEPSECS):c.*807A>G rs13109061 0.38145
NM_016955.4(SEPSECS):c.*455C>T rs73252520 0.08857
NM_016955.4(SEPSECS):c.*2694A>G rs956925 0.07936
NM_016955.4(SEPSECS):c.1356G>C (p.Lys452Asn) rs2302566 0.07763
NM_016955.4(SEPSECS):c.1211+7A>G rs17408685 0.04557
NM_016955.4(SEPSECS):c.*638G>C rs10004441 0.01839
NM_016955.4(SEPSECS):c.*2209A>G rs9998044 0.01837
NM_016955.4(SEPSECS):c.*2966A>G rs115116065 0.01758
NM_016955.4(SEPSECS):c.*3848C>T rs111294195 0.01439
NM_016955.4(SEPSECS):c.*681A>C rs76926200 0.01167
NM_016955.4(SEPSECS):c.*1041T>C rs114420733 0.01027
NM_016955.4(SEPSECS):c.1120+12T>C rs4697552 0.00916
NM_016955.4(SEPSECS):c.1394G>A (p.Arg465Gln) rs115959591 0.00697
NM_016955.4(SEPSECS):c.*3775A>G rs115004931 0.00670
NM_016955.4(SEPSECS):c.935-5T>G rs2302564 0.00644
NM_016955.4(SEPSECS):c.*2123A>G rs142960382 0.00625
NM_016955.4(SEPSECS):c.*454C>T rs77936887 0.00552
NM_016955.4(SEPSECS):c.*2840T>C rs144070806 0.00524
NM_016955.4(SEPSECS):c.*3402A>G rs149506792 0.00300
NM_016955.4(SEPSECS):c.*3870A>T rs187861688 0.00175
NM_016955.4(SEPSECS):c.1023A>G (p.Arg341=) rs148209667 0.00165
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.*223G>A rs146860744 0.00051
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.1128A>G (p.Thr376=) rs368182922 0.00026
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.45G>A (p.Pro15=) rs77226826 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.1A>G (p.Met1Val) rs1025711998 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.811C>T (p.Arg271Ter) rs745870736 0.00005
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.389-1G>A rs754373273 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.1148dup (p.His383fs) rs761072755 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.715G>A (p.Ala239Thr) rs267607035 0.00001
NM_016955.4(SEPSECS):c.766G>T (p.Gly256Ter) rs779387647 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.1001A>G (p.Tyr334Cys) rs267607036
NM_016955.4(SEPSECS):c.1022G>A (p.Arg341Lys) rs1064796736
NM_016955.4(SEPSECS):c.1023_1026del (p.Glu343fs) rs781277383
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.115-18dup rs34423002
NM_016955.4(SEPSECS):c.115-4del rs34423002
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.1321G>A (p.Gly441Arg)
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.1466A>T (p.Asp489Val) rs773876739
NM_016955.4(SEPSECS):c.181A>G (p.Met61Val) rs910702708
NM_016955.4(SEPSECS):c.1A>T (p.Met1Leu) rs1025711998
NM_016955.4(SEPSECS):c.238G>A (p.Ala80Thr)
NM_016955.4(SEPSECS):c.289C>T (p.Arg97Ter) rs1309003036
NM_016955.4(SEPSECS):c.388+5G>A rs1057518887
NM_016955.4(SEPSECS):c.437T>C (p.Met146Thr)
NM_016955.4(SEPSECS):c.440G>A (p.Ser147Asn)
NM_016955.4(SEPSECS):c.466C>T (p.Arg156Ter) rs1712612053
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
NM_016955.5(SEPSECS):c.808dup rs776969714

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