ClinVar Miner

List of variants in gene COL4A1 reported as uncertain significance by CeGaT Center for Human Genetics Tuebingen

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Total variants: 48
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HGVS dbSNP gnomAD frequency
NM_001845.6(COL4A1):c.329T>C (p.Ile110Thr) rs138269346 0.00021
NM_001845.6(COL4A1):c.4442G>A (p.Arg1481Gln) rs376607450 0.00007
NM_001845.6(COL4A1):c.4045C>T (p.Pro1349Ser) rs761077330 0.00005
NM_001845.6(COL4A1):c.1420G>A (p.Gly474Arg) rs752346924 0.00004
NM_001845.6(COL4A1):c.1754G>A (p.Arg585His) rs754034347 0.00004
NM_001845.6(COL4A1):c.4640+3G>T rs770167198 0.00004
NM_001845.6(COL4A1):c.1885C>G (p.Pro629Ala) rs769408707 0.00003
NM_001845.6(COL4A1):c.3144G>T (p.Glu1048Asp) rs368949397 0.00003
NM_001845.6(COL4A1):c.3899T>C (p.Ile1300Thr) rs758276496 0.00003
NM_001845.6(COL4A1):c.430G>A (p.Ala144Thr) rs778175625 0.00003
NM_001845.6(COL4A1):c.1495G>A (p.Asp499Asn) rs773778552 0.00002
NM_001845.6(COL4A1):c.1729G>C (p.Gly577Arg) rs752009614 0.00002
NM_001845.6(COL4A1):c.196C>A (p.Gln66Lys) rs751220553 0.00002
NM_001845.6(COL4A1):c.1270C>A (p.Gln424Lys) rs199622845 0.00001
NM_001845.6(COL4A1):c.1536+568C>T rs1878631993 0.00001
NM_001845.6(COL4A1):c.2201C>G (p.Pro734Arg) rs527530568 0.00001
NM_001845.6(COL4A1):c.2531A>T (p.Asp844Val) rs368902134 0.00001
NM_001845.6(COL4A1):c.3178C>G (p.Pro1060Ala) rs886044336 0.00001
NM_001845.6(COL4A1):c.3341C>T (p.Pro1114Leu) rs369538377 0.00001
NM_001845.6(COL4A1):c.338A>G (p.Gln113Arg) rs779129339 0.00001
NM_001845.6(COL4A1):c.441+1G>A rs1445318211 0.00001
NM_001845.6(COL4A1):c.4796C>T (p.Ala1599Val) rs766472965 0.00001
NM_001845.6(COL4A1):c.4940C>T (p.Pro1647Leu) rs201767532 0.00001
NM_001845.6(COL4A1):c.1084+5C>T rs74508743
NM_001845.6(COL4A1):c.143A>C (p.Lys48Thr) rs1594082548
NM_001845.6(COL4A1):c.1536+557T>C
NM_001845.6(COL4A1):c.1550C>T (p.Thr517Ile) rs1269728194
NM_001845.6(COL4A1):c.1562T>C (p.Ile521Thr) rs759936052
NM_001845.6(COL4A1):c.1612C>T (p.Arg538Trp) rs397514624
NM_001845.6(COL4A1):c.1618A>G (p.Lys540Glu) rs1878444055
NM_001845.6(COL4A1):c.1804C>A (p.Pro602Thr) rs769247289
NM_001845.6(COL4A1):c.2096-8T>A
NM_001845.6(COL4A1):c.2141G>A (p.Gly714Asp) rs1064797179
NM_001845.6(COL4A1):c.234G>A (p.Lys78=) rs905794416
NM_001845.6(COL4A1):c.3133G>A (p.Ala1045Thr) rs1057519214
NM_001845.6(COL4A1):c.3378T>A (p.Asp1126Glu)
NM_001845.6(COL4A1):c.343G>A (p.Gly115Ser)
NM_001845.6(COL4A1):c.3719C>A (p.Pro1240His)
NM_001845.6(COL4A1):c.3905G>C (p.Gly1302Ala) rs1877385413
NM_001845.6(COL4A1):c.3983A>G (p.Lys1328Arg)
NM_001845.6(COL4A1):c.4213G>A (p.Gly1405Ser) rs1877181545
NM_001845.6(COL4A1):c.4373C>A (p.Pro1458Gln) rs2139146160
NM_001845.6(COL4A1):c.4652G>T (p.Cys1551Phe) rs1594530228
NM_001845.6(COL4A1):c.469-7C>A
NM_001845.6(COL4A1):c.4693A>T (p.Ile1565Phe) rs1876733964
NM_001845.6(COL4A1):c.4744T>C (p.Ser1582Pro) rs1594530090
NM_001845.6(COL4A1):c.4946C>G (p.Thr1649Ser)
NM_001845.6(COL4A1):c.607G>A (p.Gly203Arg) rs1057519191

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