ClinVar Miner

List of variants studied for autosomal recessive congenital cerebellar ataxia by GeneReviews

Included ClinVar conditions (52):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 7
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HGVS dbSNP gnomAD frequency
NM_015272.5(RPGRIP1L):c.685G>A (p.Ala229Thr) rs61747071 0.04969
NM_001173990.3(TMEM216):c.218G>T (p.Arg73Leu) rs201108965
NM_001382391.1(CSPP1):c.255_256del (p.His85fs) rs1554562278
NM_003383.5(VLDLR):c.1342C>T (p.Arg448Ter) rs80338905
NM_003383.5(VLDLR):c.2339del (p.Ile780fs) rs80338906
NM_003383.5(VLDLR):c.769C>T (p.Arg257Ter) rs80338907
NM_017777.4(MKS1):c.1115_1117del (p.Ser372del) rs754279998

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