ClinVar Miner

List of variants in gene COL6A6 reported by Ambry Genetics

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Gene type:
ClinVar version:
Total variants: 210
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HGVS dbSNP gnomAD frequency
NM_001102608.3(COL6A6):c.3136G>A (p.Asp1046Asn) rs370108251 0.00046
NM_001102608.3(COL6A6):c.1075G>C (p.Gly359Arg)
NM_001102608.3(COL6A6):c.107A>G (p.Asp36Gly)
NM_001102608.3(COL6A6):c.109C>T (p.Arg37Cys)
NM_001102608.3(COL6A6):c.1114G>T (p.Asp372Tyr)
NM_001102608.3(COL6A6):c.1116C>A (p.Asp372Glu)
NM_001102608.3(COL6A6):c.1120C>G (p.Gln374Glu)
NM_001102608.3(COL6A6):c.1223G>A (p.Arg408Gln)
NM_001102608.3(COL6A6):c.1353T>G (p.Asp451Glu)
NM_001102608.3(COL6A6):c.1717A>G (p.Lys573Glu)
NM_001102608.3(COL6A6):c.1832G>C (p.Cys611Ser)
NM_001102608.3(COL6A6):c.1855A>G (p.Met619Val)
NM_001102608.3(COL6A6):c.1859A>C (p.Lys620Thr)
NM_001102608.3(COL6A6):c.1933A>T (p.Met645Leu)
NM_001102608.3(COL6A6):c.193C>T (p.Arg65Cys)
NM_001102608.3(COL6A6):c.1940A>G (p.Asn647Ser)
NM_001102608.3(COL6A6):c.1973G>A (p.Arg658Gln)
NM_001102608.3(COL6A6):c.200C>T (p.Ala67Val)
NM_001102608.3(COL6A6):c.2030A>C (p.Asn677Thr)
NM_001102608.3(COL6A6):c.2031C>A (p.Asn677Lys)
NM_001102608.3(COL6A6):c.2035T>C (p.Phe679Leu)
NM_001102608.3(COL6A6):c.2050G>A (p.Asp684Asn)
NM_001102608.3(COL6A6):c.2065A>G (p.Ile689Val)
NM_001102608.3(COL6A6):c.2071C>A (p.Gln691Lys)
NM_001102608.3(COL6A6):c.2084T>C (p.Ile695Thr)
NM_001102608.3(COL6A6):c.2086G>C (p.Gly696Arg)
NM_001102608.3(COL6A6):c.2090A>G (p.Gln697Arg)
NM_001102608.3(COL6A6):c.209A>G (p.Gln70Arg)
NM_001102608.3(COL6A6):c.2119T>A (p.Phe707Ile)
NM_001102608.3(COL6A6):c.2155C>T (p.Arg719Trp)
NM_001102608.3(COL6A6):c.2189C>T (p.Thr730Met)
NM_001102608.3(COL6A6):c.2204A>G (p.Gln735Arg)
NM_001102608.3(COL6A6):c.2236C>T (p.Arg746Trp)
NM_001102608.3(COL6A6):c.2270T>A (p.Val757Glu)
NM_001102608.3(COL6A6):c.2369A>G (p.Asp790Gly)
NM_001102608.3(COL6A6):c.2395C>T (p.Arg799Cys)
NM_001102608.3(COL6A6):c.2410C>T (p.Arg804Trp)
NM_001102608.3(COL6A6):c.2422T>G (p.Leu808Val)
NM_001102608.3(COL6A6):c.2472G>C (p.Glu824Asp)
NM_001102608.3(COL6A6):c.2540G>A (p.Arg847Gln)
NM_001102608.3(COL6A6):c.2563G>C (p.Asp855His)
NM_001102608.3(COL6A6):c.2599G>A (p.Gly867Ser)
NM_001102608.3(COL6A6):c.2606A>T (p.Lys869Ile)
NM_001102608.3(COL6A6):c.2630A>T (p.Gln877Leu)
NM_001102608.3(COL6A6):c.2657C>T (p.Thr886Ile)
NM_001102608.3(COL6A6):c.265C>A (p.Pro89Thr)
NM_001102608.3(COL6A6):c.2707C>T (p.Arg903Trp)
NM_001102608.3(COL6A6):c.2780A>T (p.Asp927Val)
NM_001102608.3(COL6A6):c.2789A>G (p.Asn930Ser)
NM_001102608.3(COL6A6):c.2824C>A (p.Leu942Ile)
NM_001102608.3(COL6A6):c.2845G>A (p.Asp949Asn)
NM_001102608.3(COL6A6):c.2860G>A (p.Val954Met)
NM_001102608.3(COL6A6):c.2910G>T (p.Glu970Asp)
NM_001102608.3(COL6A6):c.2954G>T (p.Ser985Ile)
NM_001102608.3(COL6A6):c.2980T>A (p.Cys994Ser)
NM_001102608.3(COL6A6):c.2986A>G (p.Ile996Val)
NM_001102608.3(COL6A6):c.2990A>G (p.Asp997Gly)
NM_001102608.3(COL6A6):c.3013A>T (p.Met1005Leu)
NM_001102608.3(COL6A6):c.302T>C (p.Ile101Thr)
NM_001102608.3(COL6A6):c.3048C>G (p.Phe1016Leu)
NM_001102608.3(COL6A6):c.3085G>A (p.Asp1029Asn)
NM_001102608.3(COL6A6):c.3149C>T (p.Pro1050Leu)
NM_001102608.3(COL6A6):c.3173T>C (p.Ile1058Thr)
NM_001102608.3(COL6A6):c.3176G>A (p.Gly1059Asp)
NM_001102608.3(COL6A6):c.3184G>A (p.Glu1062Lys)
NM_001102608.3(COL6A6):c.3187A>G (p.Ile1063Val)
NM_001102608.3(COL6A6):c.3238G>A (p.Gly1080Ser)
NM_001102608.3(COL6A6):c.323G>A (p.Gly108Glu)
NM_001102608.3(COL6A6):c.3333T>G (p.Asp1111Glu)
NM_001102608.3(COL6A6):c.3338A>G (p.Gln1113Arg)
NM_001102608.3(COL6A6):c.3364G>A (p.Ala1122Thr)
NM_001102608.3(COL6A6):c.3370G>A (p.Ala1124Thr)
NM_001102608.3(COL6A6):c.3382A>G (p.Arg1128Gly)
NM_001102608.3(COL6A6):c.3403G>A (p.Val1135Met)
NM_001102608.3(COL6A6):c.3484G>A (p.Asp1162Asn)
NM_001102608.3(COL6A6):c.3499G>A (p.Val1167Ile)
NM_001102608.3(COL6A6):c.3500T>C (p.Val1167Ala)
NM_001102608.3(COL6A6):c.3514G>A (p.Val1172Ile)
NM_001102608.3(COL6A6):c.3536C>T (p.Ala1179Val)
NM_001102608.3(COL6A6):c.3541G>A (p.Glu1181Lys)
NM_001102608.3(COL6A6):c.3560A>T (p.Asp1187Val)
NM_001102608.3(COL6A6):c.3598G>A (p.Gly1200Arg)
NM_001102608.3(COL6A6):c.3619C>G (p.Gln1207Glu)
NM_001102608.3(COL6A6):c.361G>A (p.Ala121Thr)
NM_001102608.3(COL6A6):c.3627G>T (p.Trp1209Cys)
NM_001102608.3(COL6A6):c.3644A>C (p.Gln1215Pro)
NM_001102608.3(COL6A6):c.364C>T (p.Pro122Ser)
NM_001102608.3(COL6A6):c.3674A>G (p.Asn1225Ser)
NM_001102608.3(COL6A6):c.3703A>G (p.Thr1235Ala)
NM_001102608.3(COL6A6):c.380A>C (p.Asp127Ala)
NM_001102608.3(COL6A6):c.3830A>G (p.Asn1277Ser)
NM_001102608.3(COL6A6):c.3859A>G (p.Thr1287Ala)
NM_001102608.3(COL6A6):c.3998T>C (p.Leu1333Pro)
NM_001102608.3(COL6A6):c.4006C>T (p.Pro1336Ser)
NM_001102608.3(COL6A6):c.400A>G (p.Ile134Val)
NM_001102608.3(COL6A6):c.41A>T (p.His14Leu)
NM_001102608.3(COL6A6):c.4207C>A (p.Pro1403Thr)
NM_001102608.3(COL6A6):c.4210G>A (p.Gly1404Arg)
NM_001102608.3(COL6A6):c.4252C>G (p.Leu1418Val)
NM_001102608.3(COL6A6):c.4253T>C (p.Leu1418Pro)
NM_001102608.3(COL6A6):c.4348A>C (p.Asn1450His)
NM_001102608.3(COL6A6):c.4408G>A (p.Gly1470Arg)
NM_001102608.3(COL6A6):c.4418G>T (p.Gly1473Val)
NM_001102608.3(COL6A6):c.443A>G (p.Glu148Gly)
NM_001102608.3(COL6A6):c.4444G>A (p.Gly1482Arg)
NM_001102608.3(COL6A6):c.4447G>A (p.Glu1483Lys)
NM_001102608.3(COL6A6):c.4453G>A (p.Gly1485Arg)
NM_001102608.3(COL6A6):c.4456G>A (p.Asp1486Asn)
NM_001102608.3(COL6A6):c.4476C>A (p.Ser1492Arg)
NM_001102608.3(COL6A6):c.4502A>G (p.Asp1501Gly)
NM_001102608.3(COL6A6):c.4516G>C (p.Gly1506Arg)
NM_001102608.3(COL6A6):c.4588C>T (p.Arg1530Cys)
NM_001102608.3(COL6A6):c.4594A>G (p.Arg1532Gly)
NM_001102608.3(COL6A6):c.463C>T (p.Arg155Trp)
NM_001102608.3(COL6A6):c.4702A>C (p.Ile1568Leu)
NM_001102608.3(COL6A6):c.470A>T (p.Asp157Val)
NM_001102608.3(COL6A6):c.4729T>A (p.Ser1577Thr)
NM_001102608.3(COL6A6):c.472G>A (p.Gly158Arg)
NM_001102608.3(COL6A6):c.4753G>A (p.Gly1585Ser)
NM_001102608.3(COL6A6):c.475G>A (p.Val159Met)
NM_001102608.3(COL6A6):c.4769C>G (p.Ala1590Gly)
NM_001102608.3(COL6A6):c.4817G>A (p.Gly1606Glu)
NM_001102608.3(COL6A6):c.4819C>A (p.Pro1607Thr)
NM_001102608.3(COL6A6):c.4844G>T (p.Gly1615Val)
NM_001102608.3(COL6A6):c.4856G>A (p.Arg1619His)
NM_001102608.3(COL6A6):c.4894C>A (p.Leu1632Met)
NM_001102608.3(COL6A6):c.4967G>A (p.Gly1656Asp)
NM_001102608.3(COL6A6):c.4979G>T (p.Arg1660Leu)
NM_001102608.3(COL6A6):c.502A>G (p.Lys168Glu)
NM_001102608.3(COL6A6):c.5036T>C (p.Ile1679Thr)
NM_001102608.3(COL6A6):c.5083G>A (p.Gly1695Ser)
NM_001102608.3(COL6A6):c.5141C>T (p.Pro1714Leu)
NM_001102608.3(COL6A6):c.5144C>G (p.Pro1715Arg)
NM_001102608.3(COL6A6):c.5189C>A (p.Ser1730Tyr)
NM_001102608.3(COL6A6):c.5240G>A (p.Gly1747Glu)
NM_001102608.3(COL6A6):c.5246C>T (p.Pro1749Leu)
NM_001102608.3(COL6A6):c.5263C>G (p.Pro1755Ala)
NM_001102608.3(COL6A6):c.5266A>G (p.Thr1756Ala)
NM_001102608.3(COL6A6):c.5293T>A (p.Ser1765Thr)
NM_001102608.3(COL6A6):c.5296C>T (p.Arg1766Trp)
NM_001102608.3(COL6A6):c.5318T>G (p.Phe1773Cys)
NM_001102608.3(COL6A6):c.531G>T (p.Met177Ile)
NM_001102608.3(COL6A6):c.532G>C (p.Ala178Pro)
NM_001102608.3(COL6A6):c.5339T>C (p.Met1780Thr)
NM_001102608.3(COL6A6):c.5342C>T (p.Ala1781Val)
NM_001102608.3(COL6A6):c.5369G>A (p.Arg1790Gln)
NM_001102608.3(COL6A6):c.5378G>C (p.Ser1793Thr)
NM_001102608.3(COL6A6):c.5425G>T (p.Ala1809Ser)
NM_001102608.3(COL6A6):c.5432A>T (p.His1811Leu)
NM_001102608.3(COL6A6):c.5440C>T (p.Arg1814Cys)
NM_001102608.3(COL6A6):c.5453C>G (p.Ala1818Gly)
NM_001102608.3(COL6A6):c.5456A>T (p.Tyr1819Phe)
NM_001102608.3(COL6A6):c.5476A>G (p.Arg1826Gly)
NM_001102608.3(COL6A6):c.5504G>T (p.Arg1835Ile)
NM_001102608.3(COL6A6):c.5507C>T (p.Ser1836Phe)
NM_001102608.3(COL6A6):c.5519G>A (p.Arg1840Lys)
NM_001102608.3(COL6A6):c.5525T>C (p.Ile1842Thr)
NM_001102608.3(COL6A6):c.5570C>T (p.Thr1857Met)
NM_001102608.3(COL6A6):c.5587A>G (p.Thr1863Ala)
NM_001102608.3(COL6A6):c.5588C>T (p.Thr1863Met)
NM_001102608.3(COL6A6):c.5599G>T (p.Ala1867Ser)
NM_001102608.3(COL6A6):c.559C>T (p.Arg187Trp)
NM_001102608.3(COL6A6):c.5656A>G (p.Met1886Val)
NM_001102608.3(COL6A6):c.5666G>A (p.Gly1889Asp)
NM_001102608.3(COL6A6):c.5677A>G (p.Ile1893Val)
NM_001102608.3(COL6A6):c.5689G>A (p.Val1897Met)
NM_001102608.3(COL6A6):c.5722C>G (p.Arg1908Gly)
NM_001102608.3(COL6A6):c.5776G>A (p.Gly1926Arg)
NM_001102608.3(COL6A6):c.5782G>A (p.Asp1928Asn)
NM_001102608.3(COL6A6):c.5802G>C (p.Glu1934Asp)
NM_001102608.3(COL6A6):c.5813G>A (p.Arg1938Gln)
NM_001102608.3(COL6A6):c.5813G>T (p.Arg1938Leu)
NM_001102608.3(COL6A6):c.5825G>A (p.Cys1942Tyr)
NM_001102608.3(COL6A6):c.5846A>G (p.Asp1949Gly)
NM_001102608.3(COL6A6):c.5921G>A (p.Arg1974Gln)
NM_001102608.3(COL6A6):c.5977G>A (p.Asp1993Asn)
NM_001102608.3(COL6A6):c.5983T>C (p.Phe1995Leu)
NM_001102608.3(COL6A6):c.6016A>G (p.Thr2006Ala)
NM_001102608.3(COL6A6):c.6034C>G (p.Leu2012Val)
NM_001102608.3(COL6A6):c.604A>T (p.Ile202Phe)
NM_001102608.3(COL6A6):c.6055G>A (p.Asp2019Asn)
NM_001102608.3(COL6A6):c.6076A>G (p.Lys2026Glu)
NM_001102608.3(COL6A6):c.6085G>T (p.Val2029Phe)
NM_001102608.3(COL6A6):c.610A>C (p.Lys204Gln)
NM_001102608.3(COL6A6):c.6143T>A (p.Val2048Glu)
NM_001102608.3(COL6A6):c.6182T>C (p.Ile2061Thr)
NM_001102608.3(COL6A6):c.6185G>A (p.Gly2062Asp)
NM_001102608.3(COL6A6):c.6198G>T (p.Gln2066His)
NM_001102608.3(COL6A6):c.6393T>G (p.Asp2131Glu)
NM_001102608.3(COL6A6):c.6409T>G (p.Leu2137Val)
NM_001102608.3(COL6A6):c.641T>C (p.Val214Ala)
NM_001102608.3(COL6A6):c.6437G>A (p.Arg2146Gln)
NM_001102608.3(COL6A6):c.6448C>G (p.Pro2150Ala)
NM_001102608.3(COL6A6):c.6454C>T (p.His2152Tyr)
NM_001102608.3(COL6A6):c.6482C>T (p.Ser2161Phe)
NM_001102608.3(COL6A6):c.6496A>G (p.Ile2166Val)
NM_001102608.3(COL6A6):c.6497T>C (p.Ile2166Thr)
NM_001102608.3(COL6A6):c.6584G>A (p.Arg2195Gln)
NM_001102608.3(COL6A6):c.65G>A (p.Gly22Asp)
NM_001102608.3(COL6A6):c.6613C>T (p.Leu2205Phe)
NM_001102608.3(COL6A6):c.6693A>C (p.Arg2231Ser)
NM_001102608.3(COL6A6):c.6758G>A (p.Arg2253Lys)
NM_001102608.3(COL6A6):c.733T>A (p.Phe245Ile)
NM_001102608.3(COL6A6):c.737A>T (p.Asp246Val)
NM_001102608.3(COL6A6):c.781A>G (p.Ile261Val)
NM_001102608.3(COL6A6):c.809T>C (p.Leu270Pro)
NM_001102608.3(COL6A6):c.898T>C (p.Ser300Pro)
NM_001102608.3(COL6A6):c.901C>T (p.Pro301Ser)
NM_001102608.3(COL6A6):c.905G>A (p.Arg302Gln)
NM_001102608.3(COL6A6):c.968G>A (p.Arg323Gln)

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