ClinVar Miner

List of variants reported as uncertain significance for COL4A1-related disorder by PreventionGenetics, part of Exact Sciences

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Total variants: 47
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HGVS dbSNP gnomAD frequency
NM_001845.6(COL4A1):c.7C>A (p.Pro3Thr) rs751749989 0.00048
NM_001845.6(COL4A1):c.1588C>T (p.Pro530Ser) rs145172612 0.00031
NM_001845.6(COL4A1):c.1820G>T (p.Gly607Val) rs148781420 0.00020
NM_001845.6(COL4A1):c.3946C>G (p.Gln1316Glu) rs377122126 0.00020
NM_001845.6(COL4A1):c.1753C>T (p.Arg585Cys) rs374223828 0.00015
NM_001845.6(COL4A1):c.2447C>T (p.Pro816Leu) rs781249721 0.00008
NM_001845.6(COL4A1):c.4441C>T (p.Arg1481Trp) rs199586038 0.00008
NM_001845.6(COL4A1):c.3164C>T (p.Pro1055Leu) rs375787099 0.00006
NM_001845.6(COL4A1):c.1754G>A (p.Arg585His) rs754034347 0.00004
NM_001845.6(COL4A1):c.196C>A (p.Gln66Lys) rs751220553 0.00002
NM_001845.6(COL4A1):c.1091C>T (p.Pro364Leu) rs755483519 0.00001
NM_001845.6(COL4A1):c.1837C>G (p.Pro613Ala) rs1432737813 0.00001
NM_001845.6(COL4A1):c.2516C>T (p.Pro839Leu) rs763434858 0.00001
NM_001845.6(COL4A1):c.1180G>A (p.Gly394Ser)
NM_001845.6(COL4A1):c.119A>T (p.Asp40Val)
NM_001845.6(COL4A1):c.1714C>T (p.Pro572Ser)
NM_001845.6(COL4A1):c.1748G>T (p.Gly583Val)
NM_001845.6(COL4A1):c.1796A>G (p.Asp599Gly)
NM_001845.6(COL4A1):c.1892T>C (p.Leu631Pro)
NM_001845.6(COL4A1):c.1897G>T (p.Gly633Cys)
NM_001845.6(COL4A1):c.2066T>C (p.Ile689Thr)
NM_001845.6(COL4A1):c.2081C>T (p.Pro694Leu)
NM_001845.6(COL4A1):c.2242C>G (p.Pro748Ala)
NM_001845.6(COL4A1):c.2293G>A (p.Val765Ile)
NM_001845.6(COL4A1):c.2377G>A (p.Val793Met) rs769302846
NM_001845.6(COL4A1):c.2407C>T (p.Pro803Ser)
NM_001845.6(COL4A1):c.263G>C (p.Gly88Ala)
NM_001845.6(COL4A1):c.2758C>T (p.Pro920Ser)
NM_001845.6(COL4A1):c.3031_3033dup (p.Gly1011_Ser1012insGly)
NM_001845.6(COL4A1):c.3187_3189delinsTGT (p.Arg1063Cys)
NM_001845.6(COL4A1):c.3376G>T (p.Asp1126Tyr)
NM_001845.6(COL4A1):c.3557-3C>G
NM_001845.6(COL4A1):c.362G>A (p.Gly121Asp)
NM_001845.6(COL4A1):c.3749C>T (p.Pro1250Leu)
NM_001845.6(COL4A1):c.377A>G (p.Asn126Ser)
NM_001845.6(COL4A1):c.4001_4002delinsGC (p.Gln1334Arg)
NM_001845.6(COL4A1):c.4139A>G (p.Lys1380Arg)
NM_001845.6(COL4A1):c.4348A>G (p.Arg1450Gly)
NM_001845.6(COL4A1):c.4462G>C (p.Gly1488Arg)
NM_001845.6(COL4A1):c.4529T>C (p.Val1510Ala)
NM_001845.6(COL4A1):c.4565G>T (p.Trp1522Leu)
NM_001845.6(COL4A1):c.4757A>T (p.His1586Leu) rs1566332829
NM_001845.6(COL4A1):c.4927A>C (p.Lys1643Gln)
NM_001845.6(COL4A1):c.4937C>T (p.Thr1646Met)
NM_001845.6(COL4A1):c.740A>C (p.Gln247Pro)
NM_001845.6(COL4A1):c.84+2dup
NM_001845.6(COL4A1):c.974C>T (p.Ala325Val)

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