ClinVar Miner

List of variants in gene COL1A1, LOC126862586 studied for Caffey disease

Included ClinVar conditions (9):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 7
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HGVS dbSNP gnomAD frequency
NM_000088.4(COL1A1):c.859-14T>G rs17639446 0.07746
NM_000088.4(COL1A1):c.904-9G>T rs141726413 0.00680
NM_000088.4(COL1A1):c.750+12G>T rs79480112 0.00434
NM_000088.4(COL1A1):c.769G>A (p.Gly257Arg) rs72645321
NM_000088.4(COL1A1):c.804+15A>C rs148110802
NM_000088.4(COL1A1):c.814G>T (p.Gly272Cys) rs72645331
NM_000088.4(COL1A1):c.887G>T (p.Gly296Val) rs1567761800

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