ClinVar Miner

List of variants reported as likely pathogenic for Cerebral creatine deficiency syndrome

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Total variants: 10
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HGVS dbSNP
NM_000156.6(GAMT):c.163_181+6del
NM_000156.6(GAMT):c.182-2A>G
NM_000156.6(GAMT):c.327+1G>T
NM_000156.6(GAMT):c.328-1G>A
NM_000156.6(GAMT):c.328-2A>G
NM_000156.6(GAMT):c.391+1G>C rs1600158894
NM_000156.6(GAMT):c.3G>A (p.Met1Ile)
NM_000156.6(GAMT):c.407C>T (p.Thr136Met) rs374724533
NM_000156.6(GAMT):c.526G>T (p.Glu176Ter) rs796052525
NM_000156.6(GAMT):c.526del (p.Glu176fs)

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