ClinVar Miner

List of variants in gene COL4A1 reported by Ambry Genetics

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 55
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_001845.6(COL4A1):c.1735G>A (p.Val579Ile) rs141527136 0.00031
NM_001845.6(COL4A1):c.329T>C (p.Ile110Thr) rs138269346 0.00021
NM_001845.6(COL4A1):c.3712C>T (p.Arg1238Cys) rs148801165 0.00015
NM_001845.6(COL4A1):c.4755+3A>G rs570472326 0.00009
NM_001845.6(COL4A1):c.1427G>A (p.Arg476Gln) rs376673751 0.00006
NM_001845.6(COL4A1):c.4045C>T (p.Pro1349Ser) rs761077330 0.00005
NM_001845.6(COL4A1):c.1402C>T (p.Leu468Phe) rs757163211 0.00004
NM_001845.6(COL4A1):c.1420G>A (p.Gly474Arg) rs752346924 0.00004
NM_001845.6(COL4A1):c.3997G>A (p.Asp1333Asn) rs141395813 0.00004
NM_001845.6(COL4A1):c.922G>A (p.Gly308Arg) rs370677625 0.00003
NM_001845.6(COL4A1):c.3097C>T (p.Pro1033Ser) rs373131870 0.00002
NM_001845.6(COL4A1):c.1270C>A (p.Gln424Lys) rs199622845 0.00001
NM_001845.6(COL4A1):c.2080C>T (p.Pro694Ser) rs760462654 0.00001
NM_001845.6(COL4A1):c.38C>T (p.Pro13Leu) rs1031870898 0.00001
NM_001845.6(COL4A1):c.1180G>C (p.Gly394Arg) rs1879015838
NM_001845.6(COL4A1):c.124C>T (p.His42Tyr)
NM_001845.6(COL4A1):c.1264C>A (p.Pro422Thr)
NM_001845.6(COL4A1):c.1391G>A (p.Gly464Glu)
NM_001845.6(COL4A1):c.1536A>T (p.Pro512=)
NM_001845.6(COL4A1):c.1689A>C (p.Arg563Ser)
NM_001845.6(COL4A1):c.1696C>T (p.His566Tyr)
NM_001845.6(COL4A1):c.1849A>C (p.Lys617Gln)
NM_001845.6(COL4A1):c.1927C>G (p.Pro643Ala)
NM_001845.6(COL4A1):c.1961C>T (p.Pro654Leu)
NM_001845.6(COL4A1):c.2065A>G (p.Ile689Val)
NM_001845.6(COL4A1):c.2096G>A (p.Gly699Asp) rs1064795935
NM_001845.6(COL4A1):c.2119A>G (p.Met707Val)
NM_001845.6(COL4A1):c.2277C>A (p.Ser759Arg) rs764059421
NM_001845.6(COL4A1):c.2279T>G (p.Ile760Ser)
NM_001845.6(COL4A1):c.2317G>A (p.Gly773Arg) rs672601347
NM_001845.6(COL4A1):c.2494G>A (p.Gly832Arg) rs797044867
NM_001845.6(COL4A1):c.2514G>T (p.Met838Ile)
NM_001845.6(COL4A1):c.2623C>T (p.Pro875Ser)
NM_001845.6(COL4A1):c.2705C>T (p.Pro902Leu) rs146134172
NM_001845.6(COL4A1):c.2712A>T (p.Glu904Asp)
NM_001845.6(COL4A1):c.2758C>T (p.Pro920Ser)
NM_001845.6(COL4A1):c.3032G>A (p.Gly1011Glu) rs1555303010
NM_001845.6(COL4A1):c.3067G>A (p.Gly1023Arg) rs1555302942
NM_001845.6(COL4A1):c.3311G>A (p.Ser1104Asn)
NM_001845.6(COL4A1):c.3499G>A (p.Glu1167Lys) rs1555302739
NM_001845.6(COL4A1):c.3505+1G>A rs1555302735
NM_001845.6(COL4A1):c.3509T>C (p.Leu1170Pro)
NM_001845.6(COL4A1):c.3674G>A (p.Gly1225Glu) rs1555302454
NM_001845.6(COL4A1):c.3941G>A (p.Gly1314Glu) rs1555301943
NM_001845.6(COL4A1):c.4006G>A (p.Val1336Ile)
NM_001845.6(COL4A1):c.4058A>G (p.Asp1353Gly)
NM_001845.6(COL4A1):c.4069G>T (p.Gly1357Trp)
NM_001845.6(COL4A1):c.40G>T (p.Ala14Ser)
NM_001845.6(COL4A1):c.4265C>T (p.Pro1422Leu)
NM_001845.6(COL4A1):c.4540G>A (p.Ala1514Thr) rs1555301346
NM_001845.6(COL4A1):c.4882G>T (p.Ala1628Ser)
NM_001845.6(COL4A1):c.4981C>T (p.Arg1661Cys) rs1555300086
NM_001845.6(COL4A1):c.673C>A (p.Gln225Lys)
NM_001845.6(COL4A1):c.813G>A (p.Met271Ile)
NM_001845.6(COL4A1):c.868G>A (p.Gly290Arg)

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.