ClinVar Miner

List of variants reported as uncertain significance for Pontocerebellar hypoplasia type 2D by Illumina Laboratory Services, Illumina

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Total variants: 51
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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.*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.*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.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.*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.*1574T>C rs886059349 0.00004
NM_016955.4(SEPSECS):c.*1620C>T rs886059348 0.00004
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.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.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.*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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