ClinVar Miner

List of variants in gene COL4A5 reported by Women's Health and Genetics/Laboratory Corporation of America, LabCorp

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Total variants: 41
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HGVS dbSNP gnomAD frequency
NM_033380.3(COL4A5):c.1331T>G (p.Ile444Ser) rs2272946 0.11020
NM_033380.3(COL4A5):c.1095G>C (p.Gly365=) rs2272945 0.10302
NM_033380.3(COL4A5):c.4293C>T (p.Asp1431=) rs61746140 0.10149
NM_033380.3(COL4A5):c.1289C>A (p.Ala430Asp) rs142883891 0.00418
NM_033380.3(COL4A5):c.4246C>T (p.Arg1416Cys) rs104886270 0.00008
NM_033380.3(COL4A5):c.1871G>A (p.Gly624Asp) rs104886142 0.00005
NM_033380.3(COL4A5):c.4550G>A (p.Arg1517His) rs104886285 0.00005
NM_033380.3(COL4A5):c.4003C>T (p.Pro1335Ser) rs757653472 0.00004
NM_033380.3(COL4A5):c.2998G>A (p.Gly1000Arg) rs2067110688 0.00003
NM_033380.3(COL4A5):c.5048G>A (p.Arg1683Gln) rs104886308 0.00002
NM_033380.3(COL4A5):c.314G>C (p.Gly105Ala) rs1569488381 0.00001
NM_033380.3(COL4A5):c.3899G>C (p.Gly1300Ala) rs1252928330 0.00001
NC_000023.10:g.(107683437_107782975)_(107834875_107838738)del
NM_033380.3(COL4A5):c.-16C>T
NM_033380.3(COL4A5):c.-25_-8dup rs752443408
NM_033380.3(COL4A5):c.1033-15del rs104886089
NM_033380.3(COL4A5):c.1340-8T>G
NM_033380.3(COL4A5):c.1608T>A (p.Gly536=)
NM_033380.3(COL4A5):c.1690G>T (p.Gly564Cys) rs281874674
NM_033380.3(COL4A5):c.1948+8T>C
NM_033380.3(COL4A5):c.2288G>A (p.Gly763Glu) rs281874689
NM_033380.3(COL4A5):c.2509+6A>G
NM_033380.3(COL4A5):c.2802dup (p.Gly935fs) rs104886368
NM_033380.3(COL4A5):c.2917+17A>G
NM_033380.3(COL4A5):c.2917+1G>C rs104886371
NM_033380.3(COL4A5):c.3017-2A>G
NM_033380.3(COL4A5):c.3365G>A (p.Gly1122Glu)
NM_033380.3(COL4A5):c.3454+5G>T
NM_033380.3(COL4A5):c.3554G>A (p.Gly1185Asp)
NM_033380.3(COL4A5):c.3604+19T>A
NM_033380.3(COL4A5):c.3907G>T (p.Gly1303Cys) rs1327176357
NM_033380.3(COL4A5):c.4092T>C (p.Pro1364=)
NM_033380.3(COL4A5):c.4097_4098inv (p.Gly1366Val)
NM_033380.3(COL4A5):c.4207G>A (p.Gly1403Ser) rs2147982351
NM_033380.3(COL4A5):c.4316G>A (p.Gly1439Asp) rs281874735
NM_033380.3(COL4A5):c.465+12A>T
NM_033380.3(COL4A5):c.4892G>A (p.Arg1631His)
NM_033380.3(COL4A5):c.4995-1G>T rs2148003624
NM_033380.3(COL4A5):c.665T>G (p.Phe222Cys) rs281874761
NM_033380.3(COL4A5):c.827G>T (p.Gly276Val)
NM_033380.3(COL4A5):c.830C>T (p.Pro277Leu) rs754849522

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