ClinVar Miner

List of variants reported as not provided for autosomal recessive congenital cerebellar ataxia by GenomeConnect, ClinGen

Included ClinVar conditions (52):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 6
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HGVS dbSNP gnomAD frequency
NM_001329943.3(KIAA0586):c.94dup (p.His32fs) rs555421894 0.00053
NM_001163809.2(WDR81):c.5582C>T (p.Pro1861Leu) rs151078477 0.00024
NM_001163809.2(WDR81):c.626C>A (p.Pro209His) rs200343855 0.00003
NM_025114.4(CEP290):c.3708dup (p.Arg1237fs) rs758991387 0.00002
NM_001329943.3(KIAA0586):c.2932_2944+4del rs1278372009 0.00001
NM_025114.4(CEP290):c.1219_1220del (p.Met407fs) rs386834148

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