List of variants in gene COL5A1 reported by Centre for Mendelian Genomics, University Medical Centre Ljubljana

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
		ClinVar version:

Total variants: 14

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HGVS	dbSNP	gnomAD frequency
NM_000093.5(COL5A1):c.4230+5C>T	rs142248898	0.00182
NM_000093.5(COL5A1):c.754C>T (p.Pro252Ser)	rs369781295	0.00007
NM_000093.5(COL5A1):c.57G>A (p.Leu19=)	rs761259908	0.00002
NM_000093.5(COL5A1):c.1389G>A (p.Pro463=)	rs1057518771	0.00001
NM_000093.5(COL5A1):c.628C>T (p.Arg210Trp)	rs1490728700	0.00001
NM_000093.5(COL5A1):c.1495-7T>A	rs1835738568
NM_000093.5(COL5A1):c.1780C>G (p.Arg594Gly)	rs1554792869
NM_000093.5(COL5A1):c.2646+16del	rs1837447151
NM_000093.5(COL5A1):c.2731C>T (p.Gln911Ter)	rs1837850102
NM_000093.5(COL5A1):c.2903del (p.Pro968fs)	rs1057518871
NM_000093.5(COL5A1):c.3760C>T (p.Pro1254Ser)	rs1554805125
NM_000093.5(COL5A1):c.608G>T (p.Gly203Val)	rs1554781700
NM_000093.5(COL5A1):c.808G>A (p.Gly270Ser)	rs1834748686
NM_000093.5(COL5A1):c.868C>G (p.Pro290Ala)	rs754640324

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