List of variants in gene combination COL4A3, MFF-DT reported by Molecular Biology Laboratory, Fundació Puigvert

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: 18

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HGVS	dbSNP	gnomAD frequency
NM_000091.5(COL4A3):c.4981C>T (p.Arg1661Cys)	rs201697532	0.00039
NM_000091.5(COL4A3):c.3829G>A (p.Gly1277Ser)	rs190598500	0.00035
NM_000091.5(COL4A3):c.4649T>G (p.Val1550Gly)	rs200655479	0.00006
NM_000091.5(COL4A3):c.2371C>T (p.Arg791Ter)	rs1060499654	0.00001
NM_000091.5(COL4A3):c.4826G>A (p.Arg1609Gln)	rs1380878336	0.00001
NM_000091.5(COL4A3):c.4996A>G (p.Met1666Val)	rs759583948	0.00001
NM_000091.5(COL4A3):c.2074G>A (p.Gly692Ser)	rs761780956
NM_000091.5(COL4A3):c.2126G>A (p.Gly709Glu)	rs1553759430
NM_000091.5(COL4A3):c.2153G>C (p.Gly718Ala)	rs267599232
NM_000091.5(COL4A3):c.2275G>A (p.Gly759Arg)	rs2071886531
NM_000091.5(COL4A3):c.2390C>T (p.Pro797Leu)	rs1283533086
NM_000091.5(COL4A3):c.2987_2993del (p.Arg996fs)	rs2072585319
NM_000091.5(COL4A3):c.3044G>A (p.Gly1015Glu)	rs121912826
NM_000091.5(COL4A3):c.345del (p.Pro116fs)	rs749390823
NM_000091.5(COL4A3):c.4045G>A (p.Gly1349Ser)	rs2073401281
NM_000091.5(COL4A3):c.4732T>C (p.Trp1578Arg)	rs2073646176
NM_000091.5(COL4A3):c.547G>T (p.Gly183Cys)	rs2069716520
NM_000091.5(COL4A3):c.725G>A (p.Gly242Glu)	rs1574699806

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