ClinVar Miner

List of variants in gene COL4A1 reported by Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics

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Total variants: 6
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HGVS dbSNP gnomAD frequency
NM_001845.6(COL4A1):c.1000-13C>G rs115358624 0.01174
NM_001845.6(COL4A1):c.279+20A>T rs79359215 0.01095
NM_001845.6(COL4A1):c.3949+10C>T rs188122235 0.00488
NM_001845.6(COL4A1):c.3776C>G (p.Pro1259Arg) rs146329532 0.00352
NM_001845.6(COL4A1):c.3326-13dup rs139122216
NM_001845.6(COL4A1):c.634G>A (p.Gly212Ser) rs878853070

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