ClinVar Miner

List of variants studied for Pontocerebellar hypoplasia type 2D by Illumina Laboratory Services, Illumina

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Total variants: 72
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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 0.09359
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.*2966A>G rs115116065 0.01722
NM_016955.4(SEPSECS):c.*2209A>G rs9998044 0.01717
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 0.00967
NM_016955.4(SEPSECS):c.1120+12T>C rs4697552 0.00916
NM_016955.4(SEPSECS):c.935-5T>G rs2302564 0.00823
NM_016955.4(SEPSECS):c.1394G>A (p.Arg465Gln) rs115959591 0.00697
NM_016955.4(SEPSECS):c.*2123A>G rs142960382 0.00625
NM_016955.4(SEPSECS):c.*3775A>G rs115004931 0.00624
NM_016955.4(SEPSECS):c.*2840T>C rs144070806 0.00524
NM_016955.4(SEPSECS):c.*454C>T rs77936887 0.00521
NM_016955.4(SEPSECS):c.*3402A>G rs149506792 0.00300
NM_016955.4(SEPSECS):c.*3870A>T rs187861688 0.00169
NM_016955.4(SEPSECS):c.780A>G (p.Ser260=) rs61747281 0.00120
NM_016955.4(SEPSECS):c.*223G>A rs146860744 0.00076
NM_016955.4(SEPSECS):c.*2990G>C rs555513125 0.00057
NM_016955.4(SEPSECS):c.*610G>A rs570766273 0.00054
NM_016955.4(SEPSECS):c.1276A>G (p.Thr426Ala) rs142133435 0.00046
NM_016955.4(SEPSECS):c.*253A>G rs75428345 0.00034
NM_016955.4(SEPSECS):c.*1591G>A rs751678209 0.00029
NM_016955.4(SEPSECS):c.1128A>G (p.Thr376=) rs368182922 0.00026
NM_016955.4(SEPSECS):c.45G>A (p.Pro15=) rs77226826 0.00022
NM_016955.4(SEPSECS):c.*1614T>C rs151120379 0.00019
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.*328A>T rs796305783 0.00012
NM_016955.4(SEPSECS):c.*1637G>A rs781169592 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_016955.4(SEPSECS):c.*1727G>A rs886059345 0.00009
NM_016955.4(SEPSECS):c.*2179T>C rs886059344 0.00009
NM_016955.4(SEPSECS):c.*1648G>A rs117876262 0.00008
NM_016955.4(SEPSECS):c.*2645A>G rs143152362 0.00006
NM_016955.4(SEPSECS):c.634C>G (p.Leu212Val) rs202043298 0.00006
NM_016955.4(SEPSECS):c.*1620C>T rs886059348 0.00005
NM_016955.4(SEPSECS):c.*1574T>C rs886059349 0.00004
NM_016955.4(SEPSECS):c.1257C>G (p.Phe419Leu) rs751823145 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.389-10T>C rs777854893 0.00002
NM_016955.4(SEPSECS):c.*1008T>C rs375166577 0.00001
NM_016955.4(SEPSECS):c.*2300A>G rs184832870 0.00001
NM_016955.4(SEPSECS):c.*271G>A rs544559197 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.1120+8C>A rs1728415390 0.00001
NM_016955.4(SEPSECS):c.1181T>C (p.Met394Thr) rs527970470 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.*1031G>A rs559066856
NM_016955.4(SEPSECS):c.*1622T>C rs886059347
NM_016955.4(SEPSECS):c.*1635G>A rs886059346
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.*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

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