ClinVar Miner

List of variants studied for COL4A1-related disorder

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Total variants: 150
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HGVS dbSNP gnomAD frequency
NM_001845.6(COL4A1):c.1121-18G>A rs139885514 0.00644
NM_001845.6(COL4A1):c.161C>T (p.Pro54Leu) rs34004222 0.00274
NM_001845.6(COL4A1):c.4056C>T (p.Tyr1352=) rs140210015 0.00194
NM_001845.6(COL4A1):c.1000-5T>G rs75711155 0.00155
NM_001845.6(COL4A1):c.1466-6C>T rs183563055 0.00149
NM_001845.6(COL4A1):c.651+4_651+5insCAC rs760194800 0.00087
NM_001845.6(COL4A1):c.2392G>C (p.Val798Leu) rs146950993 0.00076
NM_001845.6(COL4A1):c.1494C>T (p.Gly498=) rs149046219 0.00073
NM_001845.6(COL4A1):c.2542C>G (p.Gln848Glu) rs144207910 0.00068
NM_001845.6(COL4A1):c.3198+10G>A rs202002553 0.00048
NM_001845.6(COL4A1):c.7C>A (p.Pro3Thr) rs751749989 0.00048
NM_001845.6(COL4A1):c.1534C>T (p.Pro512Ser) rs578161281 0.00042
NM_001845.6(COL4A1):c.401C>T (p.Pro134Leu) rs140517831 0.00037
NM_001845.6(COL4A1):c.1437C>T (p.Pro479=) rs151186561 0.00031
NM_001845.6(COL4A1):c.1588C>T (p.Pro530Ser) rs145172612 0.00031
NM_001845.6(COL4A1):c.477A>T (p.Pro159=) rs141067230 0.00029
NM_001845.6(COL4A1):c.367C>T (p.Pro123Ser) rs138503916 0.00028
NM_001845.6(COL4A1):c.966G>A (p.Lys322=) rs372969177 0.00026
NM_001845.6(COL4A1):c.329T>C (p.Ile110Thr) rs138269346 0.00021
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.1725G>A (p.Ser575=) rs370332353 0.00016
NM_001845.6(COL4A1):c.1753C>T (p.Arg585Cys) rs374223828 0.00015
NM_001845.6(COL4A1):c.3170T>C (p.Ile1057Thr) rs569940067 0.00015
NM_001845.6(COL4A1):c.807+3C>T rs192723236 0.00015
NM_001845.6(COL4A1):c.4845G>A (p.Glu1615=) rs142326550 0.00014
NM_001845.6(COL4A1):c.2570C>T (p.Ser857Leu) rs145861489 0.00013
NM_001845.6(COL4A1):c.1360A>G (p.Ile454Val) rs373712845 0.00012
NM_001845.6(COL4A1):c.2955G>C (p.Gln985His) rs145018661 0.00009
NM_001845.6(COL4A1):c.2447C>T (p.Pro816Leu) rs781249721 0.00008
NM_001845.6(COL4A1):c.2869+6T>C rs557198622 0.00008
NM_001845.6(COL4A1):c.4441C>T (p.Arg1481Trp) rs199586038 0.00008
NM_001845.6(COL4A1):c.4658C>T (p.Ala1553Val) rs201150281 0.00007
NM_001845.6(COL4A1):c.4716C>T (p.Ser1572=) rs200290773 0.00007
NM_001845.6(COL4A1):c.3164C>T (p.Pro1055Leu) rs375787099 0.00006
NM_001845.6(COL4A1):c.3561A>G (p.Ser1187=) rs192470284 0.00006
NM_001845.6(COL4A1):c.3877-30C>A rs367688295 0.00006
NM_001845.6(COL4A1):c.4608C>T (p.Ile1536=) rs377100994 0.00006
NM_001845.6(COL4A1):c.1754G>A (p.Arg585His) rs754034347 0.00004
NM_001845.6(COL4A1):c.3019C>T (p.Pro1007Ser) rs141418421 0.00004
NM_001845.6(COL4A1):c.3216G>A (p.Ala1072=) rs188620231 0.00004
NM_001845.6(COL4A1):c.1000-8C>T rs199822852 0.00003
NM_001845.6(COL4A1):c.2448G>A (p.Pro816=) rs144401828 0.00003
NM_001845.6(COL4A1):c.4407C>T (p.His1469=) rs149068853 0.00003
NM_001845.6(COL4A1):c.4706C>T (p.Pro1569Leu) rs75885959 0.00003
NM_001845.6(COL4A1):c.922G>A (p.Gly308Arg) rs370677625 0.00003
NM_001845.6(COL4A1):c.196C>A (p.Gln66Lys) rs751220553 0.00002
NM_001845.6(COL4A1):c.3831C>T (p.Pro1277=) rs779198670 0.00002
NM_001845.6(COL4A1):c.852A>G (p.Gly284=) rs1440967031 0.00002
NM_001845.6(COL4A1):c.1091C>T (p.Pro364Leu) rs755483519 0.00001
NM_001845.6(COL4A1):c.1673C>T (p.Ala558Val) rs200252122 0.00001
NM_001845.6(COL4A1):c.1837C>G (p.Pro613Ala) rs1432737813 0.00001
NM_001845.6(COL4A1):c.1990+7T>C rs773725275 0.00001
NM_001845.6(COL4A1):c.2516C>T (p.Pro839Leu) rs763434858 0.00001
NM_001845.6(COL4A1):c.3187C>T (p.Arg1063Ter) rs1877827904 0.00001
NM_001845.6(COL4A1):c.4803C>T (p.Pro1601=) rs190097900 0.00001
NM_001845.6(COL4A1):c.4851C>T (p.His1617=) rs748558670 0.00001
NC_000013.11:g.110145211C>T
NM_001845.6(COL4A1):c.1022G>C (p.Gly341Ala)
NM_001845.6(COL4A1):c.1023A>G (p.Gly341=)
NM_001845.6(COL4A1):c.1180G>A (p.Gly394Ser)
NM_001845.6(COL4A1):c.119A>T (p.Asp40Val)
NM_001845.6(COL4A1):c.1425T>C (p.Tyr475=) rs1594566831
NM_001845.6(COL4A1):c.1536+1G>A
NM_001845.6(COL4A1):c.1536+595C>T
NM_001845.6(COL4A1):c.1714C>T (p.Pro572Ser)
NM_001845.6(COL4A1):c.1748G>T (p.Gly583Val)
NM_001845.6(COL4A1):c.1784G>A (p.Gly595Asp)
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.2008G>A (p.Gly670Arg) rs1878248687
NM_001845.6(COL4A1):c.2066T>C (p.Ile689Thr)
NM_001845.6(COL4A1):c.2081C>T (p.Pro694Leu)
NM_001845.6(COL4A1):c.2095+7C>T
NM_001845.6(COL4A1):c.2096-2del
NM_001845.6(COL4A1):c.2096-3C>T
NM_001845.6(COL4A1):c.2194-3C>T
NM_001845.6(COL4A1):c.2242C>G (p.Pro748Ala)
NM_001845.6(COL4A1):c.2293G>A (p.Val765Ile)
NM_001845.6(COL4A1):c.2317G>A (p.Gly773Arg) rs672601347
NM_001845.6(COL4A1):c.2377G>A (p.Val793Met) rs769302846
NM_001845.6(COL4A1):c.2407C>T (p.Pro803Ser)
NM_001845.6(COL4A1):c.2411dup (p.Gly805fs)
NM_001845.6(COL4A1):c.2486G>T (p.Gly829Val)
NM_001845.6(COL4A1):c.2494G>A (p.Gly832Arg) rs797044867
NM_001845.6(COL4A1):c.2520C>T (p.Gly840=)
NM_001845.6(COL4A1):c.263G>C (p.Gly88Ala)
NM_001845.6(COL4A1):c.2658C>T (p.Thr886=) rs2139163970
NM_001845.6(COL4A1):c.2662G>A (p.Gly888Arg) rs797045034
NM_001845.6(COL4A1):c.2705C>G (p.Pro902Arg) rs146134172
NM_001845.6(COL4A1):c.2707G>C (p.Gly903Arg)
NM_001845.6(COL4A1):c.2758C>T (p.Pro920Ser)
NM_001845.6(COL4A1):c.2869G>T (p.Gly957Ter)
NM_001845.6(COL4A1):c.2964G>A (p.Gln988=)
NM_001845.6(COL4A1):c.2969-10A>G
NM_001845.6(COL4A1):c.2969-7del
NM_001845.6(COL4A1):c.3031_3033dup (p.Gly1011_Ser1012insGly)
NM_001845.6(COL4A1):c.3059-7T>C
NM_001845.6(COL4A1):c.3187_3189delinsTGT (p.Arg1063Cys)
NM_001845.6(COL4A1):c.3198+9C>T
NM_001845.6(COL4A1):c.3294del (p.Ser1101fs)
NM_001845.6(COL4A1):c.3325+8del
NM_001845.6(COL4A1):c.3326-13dup rs139122216
NM_001845.6(COL4A1):c.3376G>T (p.Asp1126Tyr)
NM_001845.6(COL4A1):c.3505+7C>G
NM_001845.6(COL4A1):c.3557-3C>G
NM_001845.6(COL4A1):c.362G>A (p.Gly121Asp)
NM_001845.6(COL4A1):c.3645G>A (p.Pro1215=)
NM_001845.6(COL4A1):c.3749C>T (p.Pro1250Leu)
NM_001845.6(COL4A1):c.377A>G (p.Asn126Ser)
NM_001845.6(COL4A1):c.384A>G (p.Thr128=)
NM_001845.6(COL4A1):c.3851G>A (p.Gly1284Glu)
NM_001845.6(COL4A1):c.3876+9T>C
NM_001845.6(COL4A1):c.3877-23C>G
NM_001845.6(COL4A1):c.3877-39T>C
NM_001845.6(COL4A1):c.388-10G>A
NM_001845.6(COL4A1):c.388-10G>C
NM_001845.6(COL4A1):c.3972C>T (p.Leu1324=) rs535848796
NM_001845.6(COL4A1):c.4001_4002delinsGC (p.Gln1334Arg)
NM_001845.6(COL4A1):c.4041C>A (p.Gly1347=)
NM_001845.6(COL4A1):c.4139A>G (p.Lys1380Arg)
NM_001845.6(COL4A1):c.4150+9G>C
NM_001845.6(COL4A1):c.4249+10G>A
NM_001845.6(COL4A1):c.4281C>T (p.Pro1427=) rs769089749
NM_001845.6(COL4A1):c.4348A>G (p.Arg1450Gly)
NM_001845.6(COL4A1):c.4377G>A (p.Gln1459=)
NM_001845.6(COL4A1):c.4462G>C (p.Gly1488Arg)
NM_001845.6(COL4A1):c.4494C>T (p.Ser1498=)
NM_001845.6(COL4A1):c.4529T>C (p.Val1510Ala)
NM_001845.6(COL4A1):c.4565G>T (p.Trp1522Leu)
NM_001845.6(COL4A1):c.468+5A>C
NM_001845.6(COL4A1):c.4740C>T (p.Gly1580=)
NM_001845.6(COL4A1):c.4757A>T (p.His1586Leu) rs1566332829
NM_001845.6(COL4A1):c.4843G>A (p.Glu1615Lys) rs1876543576
NM_001845.6(COL4A1):c.4920G>A (p.Glu1640=)
NM_001845.6(COL4A1):c.4927A>C (p.Lys1643Gln)
NM_001845.6(COL4A1):c.4937C>T (p.Thr1646Met)
NM_001845.6(COL4A1):c.495T>C (p.His165=)
NM_001845.6(COL4A1):c.4974C>T (p.His1658=)
NM_001845.6(COL4A1):c.510G>A (p.Leu170=)
NM_001845.6(COL4A1):c.740A>C (p.Gln247Pro)
NM_001845.6(COL4A1):c.781-4T>G
NM_001845.6(COL4A1):c.822C>T (p.Val274=)
NM_001845.6(COL4A1):c.84+2dup
NM_001845.6(COL4A1):c.84+9C>G rs772306069
NM_001845.6(COL4A1):c.903+6T>C
NM_001845.6(COL4A1):c.958-5dup rs749003041
NM_001845.6(COL4A1):c.958-9del
NM_001845.6(COL4A1):c.974C>T (p.Ala325Val)

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