ClinVar Miner

List of variants studied for Spinocerebellar ataxia type 28 by Illumina Laboratory Services, Illumina

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Total variants: 50
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HGVS dbSNP gnomAD frequency
NM_006796.3(AFG3L2):c.1650A>G (p.Glu550=) rs11553521 0.77624
NM_006796.3(AFG3L2):c.1389G>A (p.Leu463=) rs11080572 0.67857
NM_006796.3(AFG3L2):c.752+6C>T rs8097342 0.67671
NM_006796.3(AFG3L2):c.*28G>C rs1129115 0.28281
NM_006796.3(AFG3L2):c.-96G>C rs12327346 0.14255
NM_006796.3(AFG3L2):c.1026+8G>A rs8091858 0.02347
NM_006796.3(AFG3L2):c.*2G>A rs113981080 0.01903
NM_006796.3(AFG3L2):c.*109A>C rs114203162 0.00915
NM_006796.3(AFG3L2):c.-71C>T rs571340907 0.00605
NM_006796.3(AFG3L2):c.-137G>C rs191000529 0.00494
NM_006796.3(AFG3L2):c.1664-9T>C rs200476229 0.00182
NM_006796.3(AFG3L2):c.-32C>T rs556432963 0.00133
NM_006796.3(AFG3L2):c.114+12C>T rs758470020 0.00124
NM_006796.3(AFG3L2):c.1319-7C>T rs182327153 0.00102
NM_006796.3(AFG3L2):c.400-14C>G rs192002414 0.00088
NM_006796.3(AFG3L2):c.-92T>C rs574201536 0.00087
NM_006796.3(AFG3L2):c.*379T>A rs150224434 0.00073
NM_006796.3(AFG3L2):c.793G>A (p.Ala265Thr) rs149605021 0.00069
NM_006796.3(AFG3L2):c.*221A>G rs886053613 0.00048
NM_006796.3(AFG3L2):c.2167G>A (p.Val723Met) rs139469785 0.00024
NM_006796.3(AFG3L2):c.*484A>G rs565352114 0.00019
NM_006796.2(AFG3L2):c.-179C>T rs576218520 0.00016
NM_006796.3(AFG3L2):c.498C>T (p.Ser166=) rs141538541 0.00016
NM_006796.3(AFG3L2):c.*326G>A rs180917336 0.00015
NM_006796.3(AFG3L2):c.-139T>C rs542643055 0.00010
NM_006796.2(AFG3L2):c.-151C>T rs554944971 0.00007
NM_006796.3(AFG3L2):c.1065G>A (p.Thr355=) rs139181972 0.00006
NM_006796.3(AFG3L2):c.*373G>A rs886053612 0.00004
NM_006796.3(AFG3L2):c.1706A>C (p.Lys569Thr) rs758811358 0.00004
NM_006796.3(AFG3L2):c.1426+9A>T rs377339236 0.00003
NM_006796.3(AFG3L2):c.718C>T (p.Arg240Trp) rs768999765 0.00003
NM_006796.3(AFG3L2):c.*585A>C rs886053611 0.00001
NM_006796.3(AFG3L2):c.1089A>G (p.Gly363=) rs747246135 0.00001
NM_006796.3(AFG3L2):c.1796G>A (p.Arg599His) rs1263405472 0.00001
NM_006796.3(AFG3L2):c.2035C>T (p.Arg679Cys) rs551015841 0.00001
NM_006796.3(AFG3L2):c.215-5A>C rs371046479 0.00001
NM_006796.3(AFG3L2):c.2175+14G>A rs758755215 0.00001
NM_006796.3(AFG3L2):c.2346G>T (p.Glu782Asp) rs886053614 0.00001
NM_006796.3(AFG3L2):c.267T>G (p.Pro89=) rs1308467906 0.00001
NM_006796.3(AFG3L2):c.365A>T (p.Lys122Ile) rs915684170 0.00001
NM_006796.3(AFG3L2):c.*311C>T rs79884272
NM_006796.3(AFG3L2):c.-18A>G rs886053618
NM_006796.3(AFG3L2):c.-78C>A rs1909190689
NM_006796.3(AFG3L2):c.1397C>T (p.Pro466Leu) rs375098002
NM_006796.3(AFG3L2):c.1516G>T (p.Ala506Ser) rs1908301962
NM_006796.3(AFG3L2):c.1664-5G>C rs886053615
NM_006796.3(AFG3L2):c.2314C>T (p.Leu772Phe) rs117182113
NM_006796.3(AFG3L2):c.268A>G (p.Lys90Glu) rs886053616
NM_006796.3(AFG3L2):c.891G>A (p.Lys297=) rs1908570292
NM_006796.3(AFG3L2):c.89C>T (p.Pro30Leu) rs886053617

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