ClinVar Miner

List of variants reported as benign for cerebellar disorder by Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center

Included ClinVar conditions (275):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 44
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HGVS dbSNP gnomAD frequency
NM_198994.3(TGM6):c.1968-10C>T rs6036467 0.98682
NM_014363.6(SACS):c.10338G>A (p.Gln3446=) rs2737701 0.98600
NM_198994.3(TGM6):c.172A>G (p.Met58Val) rs2076405 0.93204
NM_002739.5(PRKCG):c.72C>T (p.Ala24=) rs2547362 0.89099
NM_198994.3(TGM6):c.850+12G>A rs2076404 0.61481
NM_000370.3(TTPA):c.663+11T>C rs4501570 0.59337
NM_018075.5(ANO10):c.1385G>A (p.Arg462Gln) rs3772165 0.58882
NM_018075.5(ANO10):c.1293+9A>G rs7616708 0.56196
NM_022464.5(SIL1):c.153A>G (p.Thr51=) rs3088052 0.50252
NM_014053.4(FLVCR1):c.154G>C (p.Ala52Pro) rs11120047 0.45814
NM_020247.5(COQ8A):c.1660-9T>C rs7552783 0.45219
NM_198994.3(TGM6):c.1968-11C>T rs2076653 0.44564
NM_020247.5(COQ8A):c.1716T>C (p.Ser572=) rs3738725 0.42035
NM_014053.4(FLVCR1):c.1631C>T (p.Thr544Met) rs3207090 0.38895
NM_002739.5(PRKCG):c.686+14G>T rs3745405 0.36258
NM_002739.5(PRKCG):c.567T>C (p.Asn189=) rs3745406 0.35855
NM_198994.3(TGM6):c.1476G>A (p.Lys492=) rs2295077 0.26375
NM_014053.4(FLVCR1):c.1307+19T>A rs2291772 0.21660
NM_014053.4(FLVCR1):c.1593+9T>C rs17019870 0.21623
NM_020247.5(COQ8A):c.117G>A (p.Ala39=) rs11549708 0.16388
NM_024411.5(PDYN):c.600T>C (p.His200=) rs6045819 0.16142
NM_006946.4(SPTBN2):c.3101T>C (p.Val1034Ala) rs506028 0.15920
NM_001146262.4(SYT14):c.1419T>C (p.Tyr473=) rs17188183 0.09972
NM_014363.6(SACS):c.696T>A (p.Asn232Lys) rs2031640 0.08558
NM_014363.6(SACS):c.1656A>G (p.Leu552=) rs1536365 0.08543
NM_018075.5(ANO10):c.1066A>G (p.Ser356Gly) rs56389778 0.05750
NM_018075.5(ANO10):c.1682C>T (p.Thr561Met) rs17409162 0.04859
NM_002739.5(PRKCG):c.285C>T (p.Asp95=) rs17854523 0.03329
NM_002739.5(PRKCG):c.207C>T (p.Cys69=) rs307955 0.03300
NM_014053.4(FLVCR1):c.1272T>C (p.Tyr424=) rs17677416 0.02755
NM_014363.6(SACS):c.2080G>A (p.Ala694Thr) rs17325713 0.02528
NM_002739.5(PRKCG):c.1404C>G (p.Leu468=) rs35079513 0.02248
NM_016464.5(TMEM138):c.261G>A (p.Val87=) rs35245221 0.01861
NM_004977.3(KCNC3):c.1929C>T (p.Gly643=) rs111744086 0.01476
NM_020247.5(COQ8A):c.63G>A (p.Ala21=) rs11549709 0.01280
NM_014363.6(SACS):c.6781C>A (p.Leu2261Ile) rs146722795 0.00506
NM_001007026.1(ATN1):c.1462CAG[17] (p.Gln488[17]) rs60216939
NM_001128164.2(ATXN1):c.588GCA[14] (p.Gln208dup) rs193922926
NM_001128164.2(ATXN1):c.636GCA[16] (p.Gln224_Gln225dup) rs751421308
NM_001146262.4(SYT14):c.672AGA[1] (p.Glu225del) rs2307890
NM_003194.5(TBP):c.216_218del (p.Gln95del) rs71815788
NM_004115.4(FGF14):c.693G>A (p.Ala231=) rs34397704
NM_014053.4(FLVCR1):c.1594-13_1594-10dup rs41301015
NM_020247.5(COQ8A):c.1440C>T (p.Phe480=) rs12593

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