ClinVar Miner

List of variants in gene CBS reported by Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen

Minimum submission review status: Collection method:
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Gene type:
ClinVar version:
Total variants: 5
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HGVS dbSNP gnomAD frequency
NM_000071.3(CBS):c.341C>T (p.Ala114Val) rs121964964 0.00004
NM_000071.3(CBS):c.430G>A (p.Glu144Lys) rs121964966 0.00002
NM_000071.3(CBS):c.19del (p.Gln7fs) rs748695461
NM_000071.3(CBS):c.869C>A (p.Pro290Gln) rs760912339
NM_000071.3(CBS):c.903C>A (p.Tyr301Ter) rs746575551

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