ClinVar Miner

List of variants in gene combination COL1A1, LOC126862586 reported as pathogenic for Caffey disease

Included ClinVar conditions (9):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 2
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HGVS dbSNP gnomAD frequency
NM_000088.4(COL1A1):c.769G>A (p.Gly257Arg) rs72645321
NM_000088.4(COL1A1):c.814G>T (p.Gly272Cys) rs72645331

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