ClinVar Miner

List of variants studied for cerebellar ataxia by GenomeConnect - Brain Gene Registry

Included ClinVar conditions (255):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 18
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HGVS dbSNP gnomAD frequency
NM_003383.5(VLDLR):c.732C>G (p.Ile244Met) rs145995735 0.00026
GRCh37/hg19 19p13.2(chr19:13418596-13419188)x1
NM_001080414.4(CCDC88C):c.1085C>T (p.Thr362Ile)
NM_001127222.2(CACNA1A):c.1994C>T (p.Thr665Met) rs121908212
NM_001127222.2(CACNA1A):c.2904_2929del (p.Pro969fs) rs1555755909
NM_001127222.2(CACNA1A):c.322A>G (p.Ile108Val) rs1599294284
NM_001127222.2(CACNA1A):c.3692+1G>A rs1315533129
NM_001127222.2(CACNA1A):c.4031T>C (p.Leu1344Pro) rs2144773045
NM_001127222.2(CACNA1A):c.4043G>A (p.Arg1348Gln) rs1057520918
NM_001127222.2(CACNA1A):c.4515T>G (p.Phe1505Leu) rs757643322
NM_001127222.2(CACNA1A):c.5936A>C (p.Glu1979Ala)
NM_001127222.2(CACNA1A):c.7266_7271del (p.Ser2423_Gly2424del) rs775428832
NM_001127222.2(CACNA1A):c.835C>T (p.Arg279Cys) rs1555773764
NM_001142633.3(PIK3R5):c.13G>A (p.Ala5Thr)
NM_001378452.1(ITPR1):c.3617A>G (p.Lys1206Arg)
NM_003383.5(VLDLR):c.1124T>G (p.Val375Gly)
NM_015215.4(CAMTA1):c.4103_4104del (p.Glu1368fs) rs1577313897
NM_015378.4(VPS13D):c.5802A>C (p.Arg1934Ser)

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