ClinVar Miner

List of variants studied for cerebellar degeneration by Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center

Included ClinVar conditions (78):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 34
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HGVS dbSNP gnomAD frequency
NM_198994.3(TGM6):c.1968-10C>T rs6036467 0.98682
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_198994.3(TGM6):c.1968-11C>T rs2076653 0.44564
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_024411.5(PDYN):c.600T>C (p.His200=) rs6045819 0.16142
NM_006946.4(SPTBN2):c.3101T>C (p.Val1034Ala) rs506028 0.15920
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_002739.5(PRKCG):c.1404C>G (p.Leu468=) rs35079513 0.02248
NM_004977.3(KCNC3):c.1929C>T (p.Gly643=) rs111744086 0.01476
NM_004977.3(KCNC3):c.1641G>A (p.Ser547=) rs2301357 0.00867
NM_024411.5(PDYN):c.436A>C (p.Met146Leu) rs77155664 0.00698
NM_001128164.2(ATXN1):c.2150C>T (p.Ala717Val) rs41267702 0.00279
NM_004115.4(FGF14):c.636T>C (p.His212=) rs41281644 0.00149
NM_006946.4(SPTBN2):c.157+5G>A rs150159444 0.00081
NM_000784.4(CYP27A1):c.1419C>T (p.Val473=) rs138596741 0.00037
NM_000784.4(CYP27A1):c.1183C>T (p.Arg395Cys) rs121908096 0.00031
NM_004977.3(KCNC3):c.1884G>A (p.Ala628=) rs552133569 0.00023
NM_000784.4(CYP27A1):c.789C>T (p.Pro263=) rs143600636 0.00019
NM_002739.5(PRKCG):c.1747G>A (p.Val583Met) rs143513754 0.00014
NM_006946.4(SPTBN2):c.1323C>T (p.Leu441=) rs764447133 0.00002
NM_000784.4(CYP27A1):c.432T>C (p.Tyr144=) rs1553616026 0.00001
NM_000784.4(CYP27A1):c.1471G>T (p.Ala491Ser) rs72551323
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_002739.5(PRKCG):c.715C>T (p.Arg239Trp) rs1471641294
NM_003194.5(TBP):c.216_218del (p.Gln95del) rs71815788
NM_004115.4(FGF14):c.693G>A (p.Ala231=) rs34397704
NM_004977.3(KCNC3):c.2170+14C>T rs189018316

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