ClinVar Miner

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

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Total variants: 4

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HGVS	dbSNP	gnomAD frequency
NM_005559.4(LAMA1):c.4663+6T>G
NM_005559.4(LAMA1):c.4676del (p.Glu1559fs)	rs2057789980
NM_005559.4(LAMA1):c.4763del (p.Tyr1588fs)
NM_005559.4(LAMA1):c.4807-2A>G

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