ClinVar Miner

List of variants reported as uncertain significance for autosomal recessive syndromic cerebellar ataxia

Included ClinVar conditions (7):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 60
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HGVS dbSNP gnomAD frequency
NM_015378.4(VPS13D):c.4022C>T (p.Ser1341Leu) rs12407578 0.00280
NM_007254.4(PNKP):c.416G>A (p.Arg139His) rs34472250 0.00185
NM_015378.4(VPS13D):c.1414+5G>A rs190463258 0.00110
NM_020680.4(SCYL1):c.804G>A (p.Met268Ile) rs141670485 0.00076
NM_015378.4(VPS13D):c.1342A>G (p.Thr448Ala) rs146488112 0.00073
NM_007254.4(PNKP):c.901C>T (p.Arg301Trp) rs201503405 0.00061
NM_015378.4(VPS13D):c.11459A>T (p.Asn3820Ile) rs142270656 0.00043
NM_007254.4(PNKP):c.290A>G (p.Asn97Ser) rs140290151 0.00019
NM_020680.4(SCYL1):c.1507T>C (p.Cys503Arg) rs374754187 0.00016
NM_007254.4(PNKP):c.1298+6G>A rs578207030 0.00010
NM_007254.4(PNKP):c.670C>T (p.Arg224Cys) rs761117623 0.00010
NM_015378.4(VPS13D):c.9737A>G (p.Gln3246Arg) rs146589155 0.00009
NM_007254.4(PNKP):c.1003G>A (p.Gly335Ser) rs768567927 0.00006
NM_015378.4(VPS13D):c.10558G>T (p.Asp3520Tyr) rs148356821 0.00006
NM_015378.4(VPS13D):c.293A>G (p.Asn98Ser) rs776251343 0.00005
NM_015378.4(VPS13D):c.614T>C (p.Ile205Thr) rs146889077 0.00005
NM_015378.4(VPS13D):c.9928G>C (p.Glu3310Gln) rs756615407 0.00005
NM_007254.4(PNKP):c.1177C>T (p.His393Tyr) rs772610025 0.00004
NM_015378.4(VPS13D):c.9157A>G (p.Ile3053Val) rs966474941 0.00004
NM_007254.4(PNKP):c.1559A>G (p.Glu520Gly) rs886043128 0.00003
NM_015378.4(VPS13D):c.10169G>A (p.Arg3390Gln) rs769010867 0.00003
NM_001146262.4(SYT14):c.392C>G (p.Pro131Arg) rs1192775388 0.00002
NM_007254.4(PNKP):c.811G>A (p.Glu271Lys) rs1028247558 0.00002
NM_007254.4(PNKP):c.1052C>T (p.Pro351Leu) rs797045891 0.00001
NM_007254.4(PNKP):c.1389T>G (p.Phe463Leu) rs763116781 0.00001
NM_007254.4(PNKP):c.1430T>C (p.Met477Thr) rs766655539 0.00001
NM_007254.4(PNKP):c.625G>A (p.Glu209Lys) rs773641701 0.00001
NM_015378.4(VPS13D):c.2065C>T (p.Arg689Trp) rs775767366 0.00001
NM_015378.4(VPS13D):c.5897G>A (p.Arg1966His) rs180883554 0.00001
NM_015378.4(VPS13D):c.9196C>A (p.Leu3066Met) rs201819449 0.00001
NM_015378.4(VPS13D):c.9304C>G (p.Pro3102Ala) rs1465369949 0.00001
NM_002913.5(RFC1):c.398A>G (p.Asn133Ser) rs1739849007
NM_007254.4(PNKP):c.1003G>T (p.Gly335Cys) rs768567927
NM_007254.4(PNKP):c.1091G>A (p.Ser364Asn) rs1473117442
NM_007254.4(PNKP):c.131G>A (p.Arg44Gln) rs1568663138
NM_007254.4(PNKP):c.1360C>A (p.Leu454Met) rs200611702
NM_007254.4(PNKP):c.1381A>G (p.Asn461Asp) rs775762473
NM_007254.4(PNKP):c.1391G>C (p.Arg464Pro) rs377619541
NM_007254.4(PNKP):c.58C>A (p.Pro20Thr) rs3739168
NM_007254.4(PNKP):c.896C>T (p.Pro299Leu) rs2074784919
NM_015378.4(VPS13D):c.10205G>A (p.Arg3402His)
NM_015378.4(VPS13D):c.10519T>G (p.Phe3507Val) rs772644485
NM_015378.4(VPS13D):c.11062G>A (p.Ala3688Thr)
NM_015378.4(VPS13D):c.12227G>A (p.Gly4076Glu) rs1644798894
NM_015378.4(VPS13D):c.12260G>A (p.Gly4087Glu)
NM_015378.4(VPS13D):c.2225C>T (p.Thr742Met)
NM_015378.4(VPS13D):c.3106C>T (p.Arg1036Trp)
NM_015378.4(VPS13D):c.3107G>A (p.Arg1036Gln)
NM_015378.4(VPS13D):c.3190A>T (p.Thr1064Ser) rs151332868
NM_015378.4(VPS13D):c.3353C>T (p.Thr1118Met) rs1436479178
NM_015378.4(VPS13D):c.4451-16A>G rs768036528
NM_015378.4(VPS13D):c.530A>G (p.Lys177Arg) rs779567569
NM_015378.4(VPS13D):c.5455G>A (p.Val1819Met)
NM_015378.4(VPS13D):c.602C>G (p.Ala201Gly)
NM_015378.4(VPS13D):c.6965A>G (p.Tyr2322Cys)
NM_015378.4(VPS13D):c.7196G>T (p.Arg2399Leu) rs201376188
NM_015378.4(VPS13D):c.8363C>G (p.Pro2788Arg) rs868755481
NM_015378.4(VPS13D):c.8419G>A (p.Val2807Met) rs1232333514
NM_015378.4(VPS13D):c.8903G>T (p.Arg2968Leu) rs750000898
NM_020680.4(SCYL1):c.2267G>C (p.Gly756Ala) rs767319743

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