ClinVar Miner

List of variants in gene COL1A1 reported as likely pathogenic for Caffey disease

Included ClinVar conditions (9):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 9
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HGVS dbSNP gnomAD frequency
NM_000088.4(COL1A1):c.1177C>T (p.Gln393Ter) rs2144576822
NM_000088.4(COL1A1):c.1400G>A (p.Gly467Glu) rs267604943
NM_000088.4(COL1A1):c.1733G>A (p.Gly578Asp) rs2144569208
NM_000088.4(COL1A1):c.2633G>C (p.Gly878Ala) rs2144551547
NM_000088.4(COL1A1):c.3398G>A (p.Gly1133Glu) rs1906659084
NM_000088.4(COL1A1):c.3505G>A (p.Gly1169Ser) rs67815019
NM_000088.4(COL1A1):c.3769del (p.Arg1257fs) rs1906559620
NM_000088.4(COL1A1):c.608G>A (p.Gly203Asp) rs72667031
NM_000088.4(COL1A1):c.985G>C (p.Gly329Arg) rs1555574303

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