ClinVar Miner

List of variants studied for cerebellar disorder by Pars Genome Lab

Included ClinVar conditions (274):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 11
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HGVS dbSNP gnomAD frequency
NM_000784.4(CYP27A1):c.1151C>T (p.Pro384Leu) rs41272687 0.01478
NM_014363.6(SACS):c.4466A>G (p.Asn1489Ser) rs147099630 0.00521
NM_014363.6(SACS):c.10982C>T (p.Ala3661Val) rs36061856 0.00198
NM_025114.4(CEP290):c.3654T>C (p.Leu1218=) rs201838492 0.00133
NM_001386140.1(MTTP):c.2657C>T (p.Pro886Leu) rs144600401 0.00028
NM_014363.6(SACS):c.4302A>G (p.Leu1434=) rs34559250 0.00016
NM_014363.6(SACS):c.3345C>T (p.Val1115=) rs143287019 0.00015
NM_014363.6(SACS):c.10291G>C (p.Val3431Leu) rs144179865
NM_018896.5(CACNA1G):c.7007C>T (p.Pro2336Leu)
NM_025114.4(CEP290):c.2390del (p.Lys797fs) rs781670422
NM_198994.3(TGM6):c.1093+1G>T

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