ClinVar Miner

List of variants in gene COL4A1 reported as pathogenic

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Total variants: 38
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HGVS dbSNP
NM_001845.4(COL4A1):c.1493G>A (p.Gly498Asp) rs113994104
NM_001845.4(COL4A1):c.2086G>A (p.Gly696Ser) rs587780588
NM_001845.4(COL4A1):c.2317G>A (p.Gly773Arg) rs672601347
NM_001845.4(COL4A1):c.324+1G>A rs1085307816
NM_001845.4(COL4A1):c.3556+1G>T rs1555302645
NM_001845.4(COL4A1):c.3715G>A (p.Gly1239Arg) rs1085307709
NM_001845.4(COL4A1):c.3760G>A (p.Gly1254Arg) rs1085307614
NM_001845.4(COL4A1):c.3977G>T (p.Gly1326Val) rs886041714
NM_001845.5(COL4A1):c.1492G>C (p.Gly498Arg) rs267606744
NM_001845.5(COL4A1):c.1493G>T (p.Gly498Val) rs113994104
NM_001845.5(COL4A1):c.1528G>A (p.Gly510Arg) rs267606743
NM_001845.5(COL4A1):c.1555G>A (p.Gly519Arg) rs113994105
NM_001845.5(COL4A1):c.1573_1574delGGinsTT (p.Gly525Leu) rs281865426
NM_001845.5(COL4A1):c.1583G>A (p.Gly528Glu) rs113994106
NM_001845.5(COL4A1):c.1685G>A (p.Gly562Glu) rs121912857
NM_001845.5(COL4A1):c.1769G>A (p.Gly590Glu) rs113994107
NM_001845.5(COL4A1):c.1A>T (p.Met1Leu) rs113994103
NM_001845.5(COL4A1):c.2085del (p.Gly696Alafs) rs606231464
NM_001845.5(COL4A1):c.2122G>A (p.Gly708Arg) rs672601349
NM_001845.5(COL4A1):c.2159G>A (p.Gly720Asp) rs113994108
NM_001845.5(COL4A1):c.2194-1G>A rs606231465
NM_001845.5(COL4A1):c.2245G>A (p.Gly749Ser) rs113994109
NM_001845.5(COL4A1):c.2263G>A (p.Gly755Arg) rs672601346
NM_001845.5(COL4A1):c.2291G>A (p.Gly764Asp)
NM_001845.5(COL4A1):c.2317G>C (p.Gly773Arg) rs672601347
NM_001845.5(COL4A1):c.2494G>A (p.Gly832Arg) rs797044867
NM_001845.5(COL4A1):c.2672G>A (p.Gly891Asp) rs886041965
NM_001845.5(COL4A1):c.2842G>A (p.Gly948Ser) rs1555303073
NM_001845.5(COL4A1):c.3067G>A (p.Gly1023Arg) rs1555302942
NM_001845.5(COL4A1):c.3104G>T (p.Gly1035Val) rs1555302922
NM_001845.5(COL4A1):c.3389G>A (p.Gly1130Asp) rs113994111
NM_001845.5(COL4A1):c.3505+1G>A rs1555302735
NM_001845.5(COL4A1):c.3706G>A (p.Gly1236Arg) rs113994112
NM_001845.5(COL4A1):c.3976G>A (p.Gly1326Arg) rs587777379
NM_001845.5(COL4A1):c.4267G>C (p.Gly1423Arg) rs113994113
NM_001845.5(COL4A1):c.4738G>C (p.Gly1580Arg) rs113994114
NM_001845.5(COL4A1):c.4881C>G (p.Asn1627Lys) rs672601348
NM_001845.6(COL4A1):c.2228G>T (p.Gly743Val) rs1057523354

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