ClinVar Miner

List of variants reported as likely pathogenic for spastic ataxia by Molecular Medicine for Neurodegenerative and Neuromuscular Diseases Unit, IRCCS Fondazione Stella Maris

Included ClinVar conditions (21):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 38
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HGVS dbSNP gnomAD frequency
NM_006005.3(WFS1):c.1371G>T (p.Arg457Ser) rs113446173 0.00030
NM_006005.3(WFS1):c.1181A>T (p.Glu394Val) rs146563951 0.00006
NM_020435.4(GJC2):c.302G>T (p.Arg101Leu) rs375288744 0.00006
NM_000081.4(LYST):c.9616G>C (p.Asp3206His) rs746911004 0.00004
NM_006005.3(WFS1):c.2531C>T (p.Ala844Val) rs200192011 0.00003
NM_015046.7(SETX):c.5540C>T (p.Thr1847Met) rs763859485 0.00003
NM_000310.4(PPT1):c.665T>C (p.Leu222Pro) rs386833661 0.00001
NM_001001344.3(ATP2B3):c.130G>A (p.Glu44Lys) rs782756404 0.00001
NM_001032221.6(STXBP1):c.298C>T (p.Arg100Trp) rs764758291 0.00001
NM_001080414.4(CCDC88C):c.821C>T (p.Thr274Ile) rs1324937983 0.00001
NM_001166114.2(PNPLA6):c.3028G>C (p.Gly1010Arg) rs768107851 0.00001
NM_001244008.2(KIF1A):c.1139G>A (p.Arg380Gln) rs759791775 0.00001
NM_001365792.1(DAB1):c.763C>T (p.Pro255Ser) rs1646774558 0.00001
NM_006796.3(AFG3L2):c.1895G>A (p.Arg632Gln) rs1320367366 0.00001
NM_015046.7(SETX):c.482T>G (p.Val161Gly) rs1848052674 0.00001
NM_017777.4(MKS1):c.308T>C (p.Leu103Ser) rs201574278 0.00001
NM_018122.5(DARS2):c.416T>C (p.Ile139Thr) rs1279409996 0.00001
NM_024306.5(FA2H):c.965C>T (p.Ser322Leu) rs373010581 0.00001
NM_000153.4(GALC):c.797C>T (p.Thr266Ile) rs867226993
NM_000726.5(CACNB4):c.615A>T (p.Lys205Asn) rs2151410142
NM_001020658.2(PUM1):c.221G>A (p.Arg74His) rs2124008235
NM_001040142.2(SCN2A):c.5114T>C (p.Ile1705Thr) rs2105402552
NM_001080414.4(CCDC88C):c.3195+6T>C rs2139788894
NM_001130438.3(SPTAN1):c.4870C>T (p.Arg1624Cys) rs1856600618
NM_001130823.3(DNMT1):c.3311C>T (p.Ala1104Val) rs2089593597
NM_001130823.3(DNMT1):c.4636C>T (p.Pro1546Ser) rs1555687655
NM_001166114.2(PNPLA6):c.629G>A (p.Gly210Asp) rs780995803
NM_001378452.1(ITPR1):c.2683A>G (p.Ile895Val) rs750473506
NM_006086.4(TUBB3):c.1024G>A (p.Val342Met) rs1210717639
NM_006796.3(AFG3L2):c.1712T>G (p.Val571Gly) rs753148089
NM_017882.3(CLN6):c.665+1G>T rs796052356
NM_018109.4(MTPAP):c.1464A>C (p.Lys488Asn) rs1330765515
NM_018896.5(CACNA1G):c.2740G>A (p.Val914Ile) rs1051546563
NM_018896.5(CACNA1G):c.5395T>A (p.Ser1799Thr) rs2146284067
NM_022726.4(ELOVL4):c.571A>T (p.Ile191Phe) rs2127698054
NM_138773.4(SLC25A46):c.938_940dup (p.Tyr313dup) rs374899270
NM_153704.6(TMEM67):c.2081C>A (p.Thr694Asn) rs2130735756
NM_182914.3(SYNE2):c.15142C>G (p.Gln5048Glu) rs2153692395

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