List of variants reported as likely pathogenic for Caffey disease

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Total variants: 13

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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.1777G>T (p.Gly593Cys)	rs66527965
NM_000088.4(COL1A1):c.2633G>C (p.Gly878Ala)	rs2144551547
NM_000088.4(COL1A1):c.3263del
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.635G>A (p.Gly212Glu)
NM_000088.4(COL1A1):c.887G>T (p.Gly296Val)	rs1567761800
NM_000088.4(COL1A1):c.985G>C (p.Gly329Arg)	rs1555574303

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