List of variants in gene COL4A5 reported as pathogenic by Fulgent Genetics, Fulgent Genetics

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 46

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HGVS	dbSNP	gnomAD frequency
NM_033380.3(COL4A5):c.1871G>A (p.Gly624Asp)	rs104886142	0.00005
NM_033380.3(COL4A5):c.5048G>A (p.Arg1683Gln)	rs104886308	0.00002
NM_033380.3(COL4A5):c.1276G>A (p.Gly426Arg)	rs104886111	0.00001
NM_033380.3(COL4A5):c.3508G>A (p.Gly1170Ser)	rs104886237	0.00001
NM_033380.3(COL4A5):c.4315+1G>A	rs587776403	0.00001
GRCh37/hg19 Xq22.3(chrX:107683053-107940795)
NM_033380.3(COL4A5):c.1117C>T (p.Arg373Ter)	rs104886094
NM_033380.3(COL4A5):c.1120G>A (p.Gly374Arg)	rs2066342176
NM_033380.3(COL4A5):c.1217G>T (p.Gly406Val)	rs104886100
NM_033380.3(COL4A5):c.1235G>A (p.Gly412Glu)	rs104886102
NM_033380.3(COL4A5):c.1424-20T>A	rs281874668
NM_033380.3(COL4A5):c.2057del (p.Pro686fs)	rs104886167
NM_033380.3(COL4A5):c.2244+1G>T	rs281874688
NM_033380.3(COL4A5):c.2396-1G>C	rs886041509
NM_033380.3(COL4A5):c.2500G>C (p.Gly834Arg)	rs281874696
NM_033380.3(COL4A5):c.2501G>T (p.Gly834Val)	rs2147850123
NM_033380.3(COL4A5):c.2605G>A (p.Gly869Arg)	rs104886189
NM_033380.3(COL4A5):c.2633G>A (p.Gly878Glu)	rs104886199
NM_033380.3(COL4A5):c.2804G>A (p.Gly935Asp)	rs104886195
NM_033380.3(COL4A5):c.2833G>T (p.Glu945Ter)	rs2147865716
NM_033380.3(COL4A5):c.3088G>A (p.Gly1030Ser)	rs104886210
NM_033380.3(COL4A5):c.3107G>A (p.Gly1036Glu)	rs104886212
NM_033380.3(COL4A5):c.3197G>T (p.Gly1066Val)	rs104886221
NM_033380.3(COL4A5):c.3427G>A (p.Gly1143Ser)	rs104886228
NM_033380.3(COL4A5):c.3685G>A (p.Gly1229Ser)	rs1569505771
NM_033380.3(COL4A5):c.3721G>T (p.Gly1241Cys)	rs104886255
NM_033380.3(COL4A5):c.3731G>A (p.Gly1244Asp)	rs104886261
NM_033380.3(COL4A5):c.385G>A (p.Gly129Arg)	rs281874722
NM_033380.3(COL4A5):c.3932dup (p.Gly1312fs)	rs2147975121
NM_033380.3(COL4A5):c.4063del (p.Glu1355fs)	rs1556453276
NM_033380.3(COL4A5):c.4342G>C (p.Gly1448Arg)	rs104886276
NM_033380.3(COL4A5):c.4631G>A (p.Trp1544Ter)	rs104886293
NM_033380.3(COL4A5):c.465+1G>A	rs2066070056
NM_033380.3(COL4A5):c.4706+1G>T	rs1569508998
NM_033380.3(COL4A5):c.4809T>G (p.Tyr1603Ter)	rs104886299
NM_033380.3(COL4A5):c.4964T>G (p.Leu1655Arg)	rs104886303
NM_033380.3(COL4A5):c.5038C>T (p.Arg1680Ter)	rs281874753
NM_033380.3(COL4A5):c.5047C>T (p.Arg1683Ter)	rs104886306
NM_033380.3(COL4A5):c.530G>A (p.Gly177Asp)	rs1569489328
NM_033380.3(COL4A5):c.574G>T (p.Gly192Trp)	rs104886060
NM_033380.3(COL4A5):c.647G>A (p.Gly216Glu)	rs104886074
NM_033380.3(COL4A5):c.796C>T (p.Arg266Ter)	rs104886071
NM_033380.3(COL4A5):c.799G>C (p.Gly267Arg)	rs1603283567
NM_033380.3(COL4A5):c.874G>C (p.Gly292Arg)	rs104886073
NM_033380.3(COL4A5):c.884G>A (p.Gly295Asp)	rs104886079
NM_033380.3(COL4A5):c.973G>A (p.Gly325Arg)	rs104886088

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