ClinVar Miner

List of variants studied for Autosomal recessive cerebellar ataxia

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Total variants: 126
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HGVS dbSNP
NM_001346468.2(ANO10):c.-11-16174G>A rs886058485
NM_006946.3(SPTBN2):c.1722G>A (p.Glu574=) rs143083152
NM_006946.3(SPTBN2):c.2162G>A (p.Arg721His) rs200016211
NM_006946.3(SPTBN2):c.3430C>T (p.Arg1144Ter) rs1402216317
NM_006946.3(SPTBN2):c.3431G>A (p.Arg1144Gln) rs558572111
NM_006946.3(SPTBN2):c.968A>G (p.Gln323Arg) rs190532690
NM_018075.5(ANO10):c.*464C>T rs886058475
NM_018075.5(ANO10):c.*74dup rs556549778
NM_018075.5(ANO10):c.-95del rs886058483
NM_018075.5(ANO10):c.1294-3del rs778730043
NM_018075.5(ANO10):c.132dup (p.Asp45fs) rs540331226
NM_018319.3(TDP1):c.-276_-274dupCCG rs35210768
NM_018319.4(TDP1):c.*608del rs397897279
NM_018319.4(TDP1):c.*89_*90dup rs397721425
NM_018319.4(TDP1):c.-232A>C rs886050882
NM_020247.4(COQ8A):c.*807_*808insT rs3215920
NM_020247.4(COQ8A):c.*815C>T rs10495274
NM_020247.4(COQ8A):c.-137C>A rs557786445
NM_020247.5(COQ8A):c.*133G>A rs149820067
NM_020247.5(COQ8A):c.*150C>T rs755137919
NM_020247.5(COQ8A):c.*22C>T rs374941896
NM_020247.5(COQ8A):c.*230G>A rs117808661
NM_020247.5(COQ8A):c.*252A>C rs886046070
NM_020247.5(COQ8A):c.*326C>G rs886046071
NM_020247.5(COQ8A):c.*349G>A rs113041399
NM_020247.5(COQ8A):c.*389dup rs11420839
NM_020247.5(COQ8A):c.*464G>A rs8159
NM_020247.5(COQ8A):c.*570T>C rs778729725
NM_020247.5(COQ8A):c.*693G>T rs886046074
NM_020247.5(COQ8A):c.*790A>G rs12565212
NM_020247.5(COQ8A):c.-10+8T>C rs145688619
NM_020247.5(COQ8A):c.-113A>G rs886046063
NM_020247.5(COQ8A):c.1163-10C>T rs886046067
NM_020247.5(COQ8A):c.117G>A (p.Ala39=) rs11549708
NM_020247.5(COQ8A):c.1188C>T (p.Asp396=) rs139133094
NM_020247.5(COQ8A):c.1399-13G>A rs73087649
NM_020247.5(COQ8A):c.1644C>T (p.Thr548=) rs141423403
NM_020247.5(COQ8A):c.1660-9T>C rs7552783
NM_020247.5(COQ8A):c.1711G>A (p.Ala571Thr) rs762900727
NM_020247.5(COQ8A):c.1716T>C (p.Ser572=) rs3738725
NM_020247.5(COQ8A):c.1800C>T (p.Val600=) rs74589348
NM_020247.5(COQ8A):c.238C>T (p.His80Tyr) rs76249490
NM_020247.5(COQ8A):c.255T>G (p.His85Gln) rs2297411
NM_020247.5(COQ8A):c.291C>T (p.Ser97=) rs111529228
NM_020247.5(COQ8A):c.358G>A (p.Val120Met) rs376347405
NM_020247.5(COQ8A):c.427G>A (p.Gly143Arg) rs760566419
NM_020247.5(COQ8A):c.687G>A (p.Leu229=) rs752409331
NM_020247.5(COQ8A):c.697G>A (p.Ala233Thr) rs376462712
NM_020247.5(COQ8A):c.811C>T (p.Arg271Cys) rs145034527
NM_021830.5(TWNK):c.*204G>A rs61871507
NM_021830.5(TWNK):c.*234T>G rs886046633
NM_021830.5(TWNK):c.*248G>A
NM_021830.5(TWNK):c.*301C>T rs41291468
NM_021830.5(TWNK):c.*341G>A
NM_021830.5(TWNK):c.*346A>C
NM_021830.5(TWNK):c.*367A>G rs62626296
NM_021830.5(TWNK):c.*419A>T rs187553791
NM_021830.5(TWNK):c.*438G>C rs886046634
NM_021830.5(TWNK):c.*453G>A
NM_021830.5(TWNK):c.*455C>T rs148810959
NM_021830.5(TWNK):c.*472_*473GA[2] rs370783985
NM_021830.5(TWNK):c.*521C>G rs11542131
NM_021830.5(TWNK):c.*552G>C
NM_021830.5(TWNK):c.*555G>A rs886046635
NM_021830.5(TWNK):c.*561C>T
NM_021830.5(TWNK):c.*574C>T rs886046636
NM_021830.5(TWNK):c.*619G>A rs886046637
NM_021830.5(TWNK):c.*709C>G rs41291470
NM_021830.5(TWNK):c.*747C>G rs886046638
NM_021830.5(TWNK):c.*763T>C rs886046639
NM_021830.5(TWNK):c.*766A>T rs3740488
NM_021830.5(TWNK):c.*769G>A
NM_021830.5(TWNK):c.*803A>G rs886046640
NM_021830.5(TWNK):c.-105T>C rs886046629
NM_021830.5(TWNK):c.-241C>T rs113159821
NM_021830.5(TWNK):c.-290G>C rs62626270
NM_021830.5(TWNK):c.-304G>A
NM_021830.5(TWNK):c.-306_-305GT[1] rs146265037
NM_021830.5(TWNK):c.-418C>T
NM_021830.5(TWNK):c.-423C>T rs886046627
NM_021830.5(TWNK):c.-470G>A rs886046626
NM_021830.5(TWNK):c.-549G>A rs886046625
NM_021830.5(TWNK):c.-584G>C
NM_021830.5(TWNK):c.-585T>G rs886046624
NM_021830.5(TWNK):c.-592C>T
NM_021830.5(TWNK):c.-605G>T rs3740484
NM_021830.5(TWNK):c.-622C>T
NM_021830.5(TWNK):c.-644A>T rs886046623
NM_021830.5(TWNK):c.-650A>G rs187213541
NM_021830.5(TWNK):c.1042G>A (p.Gly348Arg) rs62626271
NM_021830.5(TWNK):c.1070G>C (p.Arg357Pro) rs758026634
NM_021830.5(TWNK):c.1101C>T (p.Ile367=) rs200798080
NM_021830.5(TWNK):c.1102G>A (p.Val368Ile) rs17113613
NM_021830.5(TWNK):c.1172G>A (p.Arg391His) rs556445621
NM_021830.5(TWNK):c.1196A>G (p.Asn399Ser) rs863223921
NM_021830.5(TWNK):c.1244-14C>T rs758757135
NM_021830.5(TWNK):c.1488T>C (p.Thr496=) rs549767223
NM_021830.5(TWNK):c.1527C>T (p.Asp509=) rs62626272
NM_021830.5(TWNK):c.1572C>T (p.His524=)
NM_021830.5(TWNK):c.1593-3T>C rs3740486
NM_021830.5(TWNK):c.1593-5C>T rs3740485
NM_021830.5(TWNK):c.1597G>A (p.Ala533Thr)
NM_021830.5(TWNK):c.1609T>C (p.Tyr537His) rs144001072
NM_021830.5(TWNK):c.1697A>G (p.Lys566Arg) rs116046810
NM_021830.5(TWNK):c.1735-14C>A rs201795189
NM_021830.5(TWNK):c.1826G>T (p.Arg609Leu)
NM_021830.5(TWNK):c.1853C>T (p.Pro618Leu) rs886046632
NM_021830.5(TWNK):c.1906G>A (p.Ala636Thr)
NM_021830.5(TWNK):c.1953G>A (p.Lys651=)
NM_021830.5(TWNK):c.1975G>A (p.Ala659Thr) rs370814108
NM_021830.5(TWNK):c.2045G>A (p.Arg682His) rs182559752
NM_021830.5(TWNK):c.2050A>C (p.Lys684Gln) rs369223258
NM_021830.5(TWNK):c.241C>G (p.Leu81Val) rs145068570
NM_021830.5(TWNK):c.274G>A (p.Gly92Ser) rs886046630
NM_021830.5(TWNK):c.276C>T (p.Gly92=) rs886046631
NM_021830.5(TWNK):c.384C>T (p.Ser128=) rs148234280
NM_021830.5(TWNK):c.492C>T (p.Leu164=) rs775463083
NM_021830.5(TWNK):c.56G>A (p.Gly19Glu) rs767175342
NM_021830.5(TWNK):c.596G>A (p.Arg199Gln)
NM_021830.5(TWNK):c.639C>T (p.Gly213=) rs11542130
NM_021830.5(TWNK):c.672T>C (p.Ala224=)
NM_021830.5(TWNK):c.76G>A (p.Gly26Ser) rs577209883
NM_021830.5(TWNK):c.77G>T (p.Gly26Val) rs772221026
NM_021830.5(TWNK):c.913G>A (p.Val305Ile)
NM_021830.5(TWNK):c.922T>C (p.Leu308=) rs754389465
NM_182961.4(SYNE1):c.16390-2A>G rs759460806

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