ClinVar Miner

List of variants reported as likely pathogenic for cerebellar ataxia by 3billion

Included ClinVar conditions (255):
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ClinVar version:
Total variants: 32
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HGVS dbSNP gnomAD frequency
NM_021830.5(TWNK):c.1523A>G (p.Tyr508Cys) rs80356540 0.00028
NM_198994.3(TGM6):c.1024C>T (p.Arg342Trp) rs150566697 0.00010
NM_000784.4(CYP27A1):c.1415G>C (p.Gly472Ala) rs200883871 0.00001
NM_020247.5(COQ8A):c.637C>T (p.Arg213Trp) rs119468005 0.00001
NM_153704.6(TMEM67):c.725A>G (p.Asn242Ser) rs775883520 0.00001
NM_001378452.1(ITPR1):c.7798A>C (p.Thr2600Pro) rs2106494596
NM_001382391.1(CSPP1):c.1187+1G>A
NM_003383.5(VLDLR):c.262dup (p.Arg88fs) rs2130785730
NM_003383.5(VLDLR):c.325+1del
NM_003383.5(VLDLR):c.376C>T (p.Gln126Ter)
NM_005861.4(STUB1):c.469C>T (p.Gln157Ter) rs776620952
NM_006793.5(PRDX3):c.508C>T (p.Arg170Ter) rs140609531
NM_006946.4(SPTBN2):c.5974C>T (p.Gln1992Ter) rs2135319250
NM_014363.6(SACS):c.13132C>T (p.Arg4378Ter) rs747868017
NM_014363.6(SACS):c.1596T>A (p.Tyr532Ter) rs2137720760
NM_014363.6(SACS):c.3159_3160del (p.Leu1053_Phe1054insTer) rs2137637877
NM_014363.6(SACS):c.4684del (p.Ser1562fs) rs1275667662
NM_014363.6(SACS):c.5037_5038del (p.Cys1679fs) rs1868917066
NM_014363.6(SACS):c.7634del (p.Met2545fs)
NM_014363.6(SACS):c.8009dup (p.Leu2670fs)
NM_014363.6(SACS):c.9219_9220del (p.Cys3073_Asp3074delinsTer)
NM_014363.6(SACS):c.9346_9354dup (p.Lys3116_Pro3118dup) rs2137584629
NM_014363.6(SACS):c.9879del (p.Val3294fs) rs2137580025
NM_015046.7(SETX):c.6694C>T (p.Arg2232Cys) rs759299299
NM_015160.3(PMPCA):c.1204C>T (p.Arg402Ter)
NM_015378.4(VPS13D):c.8983C>T (p.Arg2995Ter) rs202180923
NM_016529.6(ATP8A2):c.518del (p.Gly173fs) rs2038343394
NM_017777.4(MKS1):c.1483C>T (p.Gln495Ter) rs2143737457
NM_018075.5(ANO10):c.1056dup (p.Glu353Ter)
NM_020247.5(COQ8A):c.1015G>A (p.Ala339Thr) rs755933881
NM_020680.4(SCYL1):c.1591_1610del (p.Arg531fs)
NM_032856.5(WDR73):c.287G>A (p.Arg96Lys) rs797044995

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