ClinVar Miner

List of variants studied for ataxia - intellectual disability - oculomotor apraxia - cerebellar cysts syndrome by MGZ Medical Genetics Center

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 4
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HGVS dbSNP gnomAD frequency
NM_005559.4(LAMA1):c.4807-2A>G rs2057777177 0.00001
NM_005559.4(LAMA1):c.4663+6T>G rs2510060375
NM_005559.4(LAMA1):c.4676del (p.Glu1559fs) rs2057789980
NM_005559.4(LAMA1):c.4763del (p.Tyr1588fs) rs2510059044

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