List of variants in gene combination COL5A1, LOC101448202 reported as likely pathogenic for not provided

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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: 10

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HGVS	dbSNP	gnomAD frequency
NM_000093.5(COL5A1):c.4471A>T (p.Ile1491Phe)	rs863223457	0.00001
NM_000093.5(COL5A1):c.4456G>A (p.Gly1486Ser)	rs1554806972
NM_000093.5(COL5A1):c.4465G>A (p.Gly1489Arg)	rs1838935159
NM_000093.5(COL5A1):c.4474G>A (p.Gly1492Ser)	rs863223458
NM_000093.5(COL5A1):c.4820del (p.Gly1607fs)
NM_000093.5(COL5A1):c.4844_4845del (p.Leu1615fs)	rs1554808136
NM_000093.5(COL5A1):c.5204G>A (p.Ser1735Asn)	rs1588615451
NM_000093.5(COL5A1):c.5370+3_5370+8delinsC	rs1064794972
NM_000093.5(COL5A1):c.5473C>T (p.Gln1825Ter)	rs1057518004
NM_000093.5(COL5A1):c.5486T>G (p.Phe1829Cys)	rs863223483

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