ClinVar Miner

List of variants studied for autosomal recessive congenital cerebellar ataxia by Johns Hopkins Genomics, Johns Hopkins University

Included ClinVar conditions (52):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 4
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HGVS dbSNP gnomAD frequency
NM_001329943.3(KIAA0586):c.4027C>T (p.Gln1343Ter) rs1566903524 0.00001
NM_001128178.3(NPHP1):c.555del (p.Lys185fs) rs766524637
NM_001378615.1(CC2D2A):c.3211_3220del (p.Arg1071fs) rs1719933188
NM_032856.5(WDR73):c.1132dup (p.Arg378fs) rs747109506

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