ClinVar Miner

List of variants studied for cerebellar ataxia by Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein

Included ClinVar conditions (255):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 21
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HGVS dbSNP gnomAD frequency
NM_005861.4(STUB1):c.433A>C (p.Lys145Gln) rs146251364 0.00063
NM_006946.4(SPTBN2):c.3722A>G (p.Glu1241Gly) rs141683210 0.00056
NM_006946.4(SPTBN2):c.92C>T (p.Ser31Leu) rs147766428 0.00056
NM_000784.4(CYP27A1):c.1183C>T (p.Arg395Cys) rs121908096 0.00031
NM_001278064.2(GRM1):c.827A>C (p.Lys276Thr) rs192397712 0.00006
NC_000004.12:g.(99601399_99613000)del
NM_001278116.2(L1CAM):c.898C>G (p.Leu300Val) rs2148497936
NM_001378452.1(ITPR1):c.800C>T (p.Thr267Met) rs797044955
NM_001378969.1(KCND3):c.1130C>T (p.Thr377Met) rs1571636501
NM_003047.5(SLC9A1):c.2031G>A (p.Glu677=) rs2083146343
NM_014396.4(VPS41):c.1999C>T (p.Arg667Ter)
NM_015046.7(SETX):c.5890C>T (p.Pro1964Ser) rs1403263153
NM_015215.4(CAMTA1):c.4622G>T (p.Arg1541Leu)
NM_015215.4(CAMTA1):c.699C>G (p.Asn233Lys)
NM_018896.5(CACNA1G):c.5125C>T (p.Arg1709Cys) rs1361597066
NM_018896.5(CACNA1G):c.5238G>C (p.Leu1746=)
NM_032856.5(WDR73):c.710dup (p.Gly238fs) rs1282630153
NM_152296.5(ATP1A3):c.1549G>C (p.Glu517Gln) rs782583311
NM_152296.5(ATP1A3):c.659A>T (p.Asp220Val)
NM_152703.5(SAMD9L):c.3066del (p.Phe1021_Tyr1022insTer) rs2116482762
NM_152703.5(SAMD9L):c.3353A>G (p.Tyr1118Cys) rs1562789302

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