ClinVar Miner

List of variants studied for autosomal recessive congenital cerebellar ataxia by Bioscientia Institut fuer Medizinische Diagnostik GmbH, Sonic Healthcare

Included ClinVar conditions (52):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 5
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HGVS dbSNP gnomAD frequency
NM_020366.4(RPGRIP1):c.3238+3A>G rs1389509266 0.00001
NM_001329943.3(KIAA0586):c.38dup (p.Ile14fs) rs745949846
NM_015272.5(RPGRIP1L):c.118C>T (p.Gln40Ter) rs1555616593
NM_025114.4(CEP290):c.2317dup (p.Ser773fs) rs1555218898
NM_032856.5(WDR73):c.287G>A (p.Arg96Lys) rs797044995

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