ClinVar Miner

List of variants in gene COL4A1 reported by Baylor Genetics

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Total variants: 18
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HGVS dbSNP gnomAD frequency
NM_001845.6(COL4A1):c.3704A>G (p.Lys1235Arg) rs781655700 0.00001
NM_001845.6(COL4A1):c.169C>T (p.Gln57Ter)
NM_001845.6(COL4A1):c.1717A>C (p.Lys573Gln) rs1006335866
NM_001845.6(COL4A1):c.2086G>A (p.Gly696Ser) rs587780588
NM_001845.6(COL4A1):c.2458+1G>A rs1878012979
NM_001845.6(COL4A1):c.2662G>A (p.Gly888Arg) rs797045034
NM_001845.6(COL4A1):c.2788G>A (p.Gly930Ser) rs2139163058
NM_001845.6(COL4A1):c.3077G>C (p.Gly1026Ala) rs1877834496
NM_001845.6(COL4A1):c.3139G>C (p.Gly1047Arg)
NM_001845.6(COL4A1):c.3218G>A (p.Gly1073Asp) rs1877801384
NM_001845.6(COL4A1):c.3353G>A (p.Gly1118Asp) rs1566349690
NM_001845.6(COL4A1):c.3358A>G (p.Lys1120Glu) rs1566349683
NM_001845.6(COL4A1):c.3406G>A (p.Gly1136Ser) rs1877783774
NM_001845.6(COL4A1):c.3555A>G (p.Lys1185=) rs1057518654
NM_001845.6(COL4A1):c.3770G>A (p.Gly1257Glu) rs1877518903
NM_001845.6(COL4A1):c.4591A>G (p.Met1531Val) rs1343193102
NM_001845.6(COL4A1):c.460_461delinsAT (p.Gly154Met)
NM_001845.6(COL4A1):c.4887C>G (p.Tyr1629Ter) rs542803991

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