ClinVar Miner

Variants from ClinGen Cerebral Creatine Deficiency Syndromes Variant Curation Expert Panel, ClinGen

Location: United States  Primary collection method: curation
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If a variant has more than one submission, it may be counted in more than one significance column. If this is the case, the total number of variants will be less than the sum of the other cells.

pathogenic likely pathogenic uncertain significance likely benign benign total
64 65 70 16 29 244

Gene and significance breakdown #

Total genes and gene combinations: 6
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign total
SLC6A8 38 30 31 7 9 115
GAMT 13 23 20 3 5 64
GATM 5 7 16 4 12 44
GAMT, LOC130062945 8 5 3 2 1 19
GAMT, NDUFS7 0 0 0 0 1 1
GATM, LOC130056991 0 0 0 0 1 1

Condition and significance breakdown #

Total conditions: 4
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Condition pathogenic likely pathogenic uncertain significance likely benign benign total
Creatine transporter deficiency 38 30 31 7 9 115
Deficiency of guanidinoacetate methyltransferase 21 28 23 5 7 84
Arginine:glycine amidinotransferase deficiency 5 7 14 4 13 43
Cerebral creatine deficiency syndrome 0 0 2 0 0 2

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