ClinVar Miner

List of variants studied for Alport syndrome 3b, autosomal recessive by Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre

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Total variants: 13
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HGVS dbSNP gnomAD frequency
NM_000091.5(COL4A3):c.3829G>A (p.Gly1277Ser) rs190598500 0.00035
NM_000091.5(COL4A3):c.4001G>A (p.Gly1334Glu) rs375290088 0.00001
NM_000091.5(COL4A3):c.1679G>T (p.Gly560Val) rs2071193842
NM_000091.5(COL4A3):c.2336del (p.Pro779fs) rs2106152005
NM_000091.5(COL4A3):c.2374G>A (p.Gly792Arg)
NM_000091.5(COL4A3):c.2962G>T (p.Gly988Ter)
NM_000091.5(COL4A3):c.2965C>G (p.Pro989Ala)
NM_000091.5(COL4A3):c.325-13_325-11del
NM_000091.5(COL4A3):c.3312AAGTCCTGG[1] (p.1105SPG[1]) rs756539994
NM_000091.5(COL4A3):c.3546dup (p.Gly1183fs)
NM_000091.5(COL4A3):c.3549dup (p.Asn1184fs)
NM_000091.5(COL4A3):c.3992G>C (p.Gly1331Ala)
NM_000091.5(COL4A3):c.452G>A (p.Gly151Asp)

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