ClinVar Miner

List of variants studied for cerebellar degeneration by Genetics and Molecular Pathology, SA Pathology

Included ClinVar conditions (265):
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Total variants: 27
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HGVS dbSNP gnomAD frequency
NM_007254.4(PNKP):c.1029+2T>C rs199919568 0.00115
NM_000051.4(ATM):c.7630-2A>C rs587779866 0.00001
NM_018075.5(ANO10):c.1219-1G>T rs1318561721 0.00001
NM_020247.5(COQ8A):c.588+1G>C rs1474965033 0.00001
NM_000051.4(ATM):c.1564_1565del (p.Glu522fs) rs587779817
NM_000051.4(ATM):c.2483del (p.Lys828fs) rs1064794234
NM_000051.4(ATM):c.7638_7646del (p.Arg2547_Ser2549del) rs587776547
NM_000051.4(ATM):c.790del (p.Tyr264fs) rs587781978
NM_001020658.2(PUM1):c.213dup (p.Ala72fs) rs2124008285
NM_001114748.2(TMEM240):c.509C>T (p.Pro170Leu) rs606231451
NM_001127222.2(CACNA1A):c.1745G>A (p.Arg582Gln) rs121908217
NM_001134831.2(AHI1):c.3105_3106del (p.Gln1035fs)
NM_001278064.2(GRM1):c.851C>T (p.Ala284Val) rs1448466753
NM_001378452.1(ITPR1):c.1510A>G (p.Arg504Gly) rs2093873520
NM_005861.4(STUB1):c.427AAG[2] (p.Lys145del) rs779647632
NM_005861.4(STUB1):c.525-1G>A rs2151505158
NM_015378.4(VPS13D):c.10562A>G (p.Asn3521Ser) rs1557737087
NM_015378.4(VPS13D):c.5725+2dup
NM_018075.5(ANO10):c.132dup (p.Asp45fs) rs540331226
NM_018896.5(CACNA1G):c.3229C>T (p.Pro1077Ser)
NM_018896.5(CACNA1G):c.5144G>A (p.Arg1715His) rs755221106
NM_021954.4(GJA3):c.56C>T (p.Thr19Met) rs1114167307
NM_032856.5(WDR73):c.6_9del (p.Asp2fs)
NM_152296.5(ATP1A3):c.2452G>A (p.Glu818Lys) rs587777771
NM_173500.4(TTBK2):c.2476A>G (p.Thr826Ala)
NM_182961.4(SYNE1):c.16849C>T (p.Arg5617Ter) rs758379604
NM_182961.4(SYNE1):c.19450C>T (p.Gln6484Ter) rs2090447154

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