ClinVar Miner

List of variants studied for cerebellar ataxia by Clinical Laboratory Sciences Program (CLSP), King Saud bin Abdulaziz University for Health Sciences (KSAU-HS)

Included ClinVar conditions (255):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 4
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HGVS dbSNP gnomAD frequency
NM_022464.5(SIL1):c.1030-9G>A rs370290043 0.00006
NM_001378615.1(CC2D2A):c.3364C>T (p.Pro1122Ser) rs118204051
NM_020247.5(COQ8A):c.1088dup (p.Val364fs)
NM_020247.5(COQ8A):c.1467dup (p.Asn490fs)

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