ClinVar Miner

List of variants studied for cerebellar disorder by Equipe Genetique des Anomalies du Developpement, Université de Bourgogne

Included ClinVar conditions (274):
Minimum submission review status: Collection method:
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ClinVar version:
Total variants: 22
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HGVS dbSNP gnomAD frequency
NM_020247.5(COQ8A):c.811C>T (p.Arg271Cys) rs145034527 0.00004
NM_020247.5(COQ8A):c.638G>A (p.Arg213Gln) rs767584322 0.00003
NM_001329943.3(KIAA0586):c.1656G>A (p.Gln552=) rs762081862 0.00001
NM_001378452.1(ITPR1):c.1516C>T (p.Arg506Trp) rs2093873570 0.00001
NC_000016.9:g.78179358_78219143delins[78185355_78199419inv]
NM_000370.3(TTPA):c.744del (p.Glu249fs) rs397515377
NM_001172509.2(SATB2):c.1924C>T (p.Gln642Ter) rs2105707111
NM_001378969.1(KCND3):c.1070C>T (p.Ser357Leu) rs867628133
NM_001382391.1(CSPP1):c.59_60del (p.Lys20fs) rs766020802
NM_006796.3(AFG3L2):c.1961C>T (p.Thr654Ile) rs151344513
NM_006946.4(SPTBN2):c.1307T>C (p.Met436Thr) rs1554986345
NM_006946.4(SPTBN2):c.1310G>A (p.Arg437Gln) rs1554986337
NM_014363.6(SACS):c.262C>T (p.Arg88Ter) rs1555255676
NM_014363.6(SACS):c.6338_6341del (p.Leu2113fs) rs1555251822
NM_015215.4(CAMTA1):c.249_252del (p.Ala82_Tyr83insTer) rs1641438649
NM_015215.4(CAMTA1):c.800del (p.Ser267fs) rs1553238311
NM_016373.4(WWOX):c.35C>G (p.Thr12Arg) rs1567567249
NM_018075.5(ANO10):c.132dup (p.Asp45fs) rs540331226
NM_018075.5(ANO10):c.1537T>C (p.Cys513Arg) rs1575415900
NM_018896.5(CACNA1G):c.2549C>T (p.Ala850Val)
NM_020247.5(COQ8A):c.1471T>A (p.Trp491Arg) rs1278938202
NM_020247.5(COQ8A):c.1625_1626del (p.Ile542fs) rs751637699

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