List of variants in gene COL27A1 reported as likely benign for Steel syndrome

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Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 4

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HGVS	dbSNP	gnomAD frequency
NM_032888.4(COL27A1):c.3878C>T (p.Thr1293Met)	rs116496505	0.01423
NM_032888.4(COL27A1):c.5063G>A (p.Arg1688Gln)	rs149629527	0.00177
NM_032888.4(COL27A1):c.2113C>T (p.Pro705Ser)	rs139039113	0.00035
NM_032888.4(COL27A1):c.1135A>T (p.Ile379Phe)	rs200179131

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