ClinVar Miner

List of variants in gene AFG3L2 studied for autosomal dominant cerebellar ataxia

Included ClinVar conditions (78):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 77
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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.-96G>C rs12327346 0.14255
NM_006796.3(AFG3L2):c.1026+8G>A rs8091858 0.02347
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.98A>C (p.Gln33Pro) rs777868371 0.00211
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.793G>A (p.Ala265Thr) rs149605021 0.00069
NM_006796.3(AFG3L2):c.2167G>A (p.Val723Met) rs139469785 0.00024
NM_006796.2(AFG3L2):c.-179C>T rs576218520 0.00016
NM_006796.3(AFG3L2):c.498C>T (p.Ser166=) rs141538541 0.00016
NM_006796.2(AFG3L2):c.-206C>A rs564906201 0.00014
NM_006796.2(AFG3L2):c.-207T>A rs533486310 0.00014
NM_006796.3(AFG3L2):c.-139T>C rs542643055 0.00010
NM_006796.3(AFG3L2):c.634G>A (p.Val212Ile) rs201966169 0.00009
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.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.-56C>A rs886053619 0.00002
NM_006796.3(AFG3L2):c.571G>A (p.Val191Ile) rs1373473541 0.00002
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.2065T>C (p.Tyr689His) rs1598820860 0.00001
NM_006796.3(AFG3L2):c.2105G>A (p.Arg702Gln) rs151344523 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.267T>G (p.Pro89=) rs1308467906 0.00001
NM_006796.3(AFG3L2):c.365A>T (p.Lys122Ile) rs915684170 0.00001
NM_006796.3(AFG3L2):c.-18A>G rs886053618
NM_006796.3(AFG3L2):c.-78C>A rs1909190689
NM_006796.3(AFG3L2):c.1119T>A (p.Ser373Arg) rs1598832568
NM_006796.3(AFG3L2):c.1164+1G>A rs1598832526
NM_006796.3(AFG3L2):c.1284G>T (p.Glu428Asp) rs1168932758
NM_006796.3(AFG3L2):c.1295A>C (p.Asn432Thr) rs151344512
NM_006796.3(AFG3L2):c.1378G>A (p.Asp460Asn) rs2143165387
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.1616C>G (p.Ser539Cys)
NM_006796.3(AFG3L2):c.161T>G (p.Leu54Arg) rs2143234608
NM_006796.3(AFG3L2):c.1664-5G>C rs886053615
NM_006796.3(AFG3L2):c.1861C>G (p.Leu621Val) rs756912142
NM_006796.3(AFG3L2):c.1875G>A (p.Met625Ile) rs727502823
NM_006796.3(AFG3L2):c.1958dup (p.Thr654fs) rs2143124461
NM_006796.3(AFG3L2):c.1961C>T (p.Thr654Ile) rs151344513
NM_006796.3(AFG3L2):c.1996A>G (p.Met666Val) rs151344514
NM_006796.3(AFG3L2):c.1997T>C (p.Met666Thr) rs151344515
NM_006796.3(AFG3L2):c.1997T>G (p.Met666Arg) rs151344515
NM_006796.3(AFG3L2):c.2011G>A (p.Gly671Arg) rs151344517
NM_006796.3(AFG3L2):c.2012G>A (p.Gly671Glu) rs151344518
NM_006796.3(AFG3L2):c.2021_2022delinsTA (p.Ser674Leu) rs151344519
NM_006796.3(AFG3L2):c.2062C>A (p.Pro688Thr) rs797045221
NM_006796.3(AFG3L2):c.2062C>T (p.Pro688Ser) rs797045221
NM_006796.3(AFG3L2):c.2065T>A (p.Tyr689Asn) rs1598820860
NM_006796.3(AFG3L2):c.2071G>A (p.Glu691Lys) rs151344520
NM_006796.3(AFG3L2):c.2081C>A (p.Ala694Glu) rs151344521
NM_006796.3(AFG3L2):c.2098G>A (p.Glu700Lys) rs151344522
NM_006796.3(AFG3L2):c.2114T>C (p.Ile705Thr) rs1598820805
NM_006796.3(AFG3L2):c.2143C>T (p.Leu715Phe) rs1907781566
NM_006796.3(AFG3L2):c.215-11_215-6del rs533823759
NM_006796.3(AFG3L2):c.2156A>G (p.Lys719Arg)
NM_006796.3(AFG3L2):c.244A>C (p.Asn82His) rs1908967089
NM_006796.3(AFG3L2):c.268A>G (p.Lys90Glu) rs886053616
NM_006796.3(AFG3L2):c.293-14_293-13del rs556473698
NM_006796.3(AFG3L2):c.53G>T (p.Gly18Val) rs866272063
NM_006796.3(AFG3L2):c.753-55T>C rs7407640
NM_006796.3(AFG3L2):c.891G>A (p.Lys297=) rs1908570292
NM_006796.3(AFG3L2):c.89C>T (p.Pro30Leu) rs886053617

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