ClinVar Miner

List of variants in gene combination COL4A3, MFF-DT reported by PreventionGenetics, part of Exact Sciences

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Total variants: 116
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HGVS dbSNP gnomAD frequency
NM_000091.5(COL4A3):c.485A>G (p.Glu162Gly) rs6436669 0.77323
NM_000091.5(COL4A3):c.422T>C (p.Leu141Pro) rs10178458 0.77314
NM_000091.5(COL4A3):c.1195C>T (p.Leu399=) rs10205042 0.72668
NM_000091.5(COL4A3):c.1721C>T (p.Pro574Leu) rs28381984 0.38447
NM_000091.5(COL4A3):c.144+12C>A rs1882435 0.29027
NM_000091.5(COL4A3):c.976G>T (p.Asp326Tyr) rs55703767 0.15364
NM_000091.5(COL4A3):c.828+20A>G rs13386404 0.12468
NM_000091.5(COL4A3):c.1352A>G (p.His451Arg) rs11677877 0.08050
NM_000091.5(COL4A3):c.1452G>A (p.Gly484=) rs34019152 0.07474
NM_000091.5(COL4A3):c.1223G>A (p.Arg408His) rs34505188 0.06909
NM_000091.5(COL4A3):c.1576-15T>G rs56243460 0.06412
NM_000091.5(COL4A3):c.3807C>A (p.Asp1269Glu) rs57611801 0.06070
NM_000091.5(COL4A3):c.1115-20T>C rs76304838 0.03709
NM_000091.5(COL4A3):c.766-13G>A rs77431913 0.02920
NM_000091.5(COL4A3):c.805G>A (p.Glu269Lys) rs80109666 0.02845
NM_000091.5(COL4A3):c.547-9A>C rs55667591 0.02682
NM_000091.5(COL4A3):c.933+14T>C rs55928538 0.02412
NM_000091.5(COL4A3):c.2715C>T (p.Pro905=) rs75519005 0.01995
NM_000091.5(COL4A3):c.2501A>G (p.Lys834Arg) rs56226424 0.01064
NM_000091.5(COL4A3):c.1505-11T>C rs115757151 0.00959
NM_000091.5(COL4A3):c.88-4C>T rs148393022 0.00744
NM_000091.5(COL4A3):c.1398T>C (p.Asp466=) rs145833114 0.00584
NM_000091.5(COL4A3):c.4484A>G (p.Gln1495Arg) rs77964815 0.00573
NM_000091.5(COL4A3):c.4380T>C (p.Cys1460=) rs114430490 0.00507
NM_000091.5(COL4A3):c.346C>A (p.Pro116Thr) rs115324397 0.00485
NM_000091.5(COL4A3):c.3325C>T (p.Pro1109Ser) rs55816283 0.00412
NM_000091.5(COL4A3):c.3258G>A (p.Gly1086=) rs147085074 0.00385
NM_000091.5(COL4A3):c.4707A>T (p.Pro1569=) rs113401495 0.00364
NM_000091.5(COL4A3):c.4893C>T (p.Phe1631=) rs183218622 0.00344
NM_000091.5(COL4A3):c.3566-10T>C rs114719458 0.00331
NM_000091.5(COL4A3):c.4421T>C (p.Leu1474Pro) rs200302125 0.00257
NM_000091.5(COL4A3):c.3031C>T (p.Arg1011Cys) rs73996408 0.00233
NM_000091.5(COL4A3):c.4665G>A (p.Ala1555=) rs200858199 0.00210
NM_000091.5(COL4A3):c.4445C>T (p.Ala1482Val) rs199755408 0.00159
NM_000091.5(COL4A3):c.112C>G (p.Gln38Glu) rs201607115 0.00132
NM_000091.5(COL4A3):c.1483C>T (p.His495Tyr) rs200510532 0.00110
NM_000091.5(COL4A3):c.1030-18G>A rs75171342 0.00109
NM_000091.5(COL4A3):c.1886C>T (p.Thr629Met) rs139361545 0.00107
NM_000091.5(COL4A3):c.222G>T (p.Pro74=) rs187950806 0.00096
NM_000091.5(COL4A3):c.4295G>A (p.Arg1432His) rs200509072 0.00080
NM_000091.5(COL4A3):c.274G>C (p.Val92Leu) rs200873401 0.00070
NM_000091.5(COL4A3):c.136G>A (p.Gly46Arg) rs200866082 0.00067
NM_000091.5(COL4A3):c.4981C>T (p.Arg1661Cys) rs201697532 0.00039
NM_000091.5(COL4A3):c.3829G>A (p.Gly1277Ser) rs190598500 0.00035
NM_000091.5(COL4A3):c.3270A>C (p.Pro1090=) rs201989155 0.00032
NM_000091.5(COL4A3):c.204T>C (p.Pro68=) rs200170381 0.00026
NM_000091.5(COL4A3):c.2699T>C (p.Ile900Thr) rs201665434 0.00022
NM_000091.5(COL4A3):c.2083G>A (p.Gly695Arg) rs200287952 0.00016
NM_000091.5(COL4A3):c.2391T>C (p.Pro797=) rs187921460 0.00016
NM_000091.5(COL4A3):c.3751+7G>A rs750554079 0.00014
NM_000091.5(COL4A3):c.688-8G>T rs748843785 0.00013
NM_000091.5(COL4A3):c.1790C>T (p.Pro597Leu) rs781163705 0.00011
NM_000091.5(COL4A3):c.3755C>T (p.Ala1252Val) rs761179248 0.00008
NM_000091.5(COL4A3):c.2961C>T (p.Pro987=) rs375523118 0.00007
NM_000091.5(COL4A3):c.3476G>A (p.Arg1159His) rs145948549 0.00007
NM_000091.5(COL4A3):c.2847C>T (p.His949=) rs373842619 0.00005
NM_000091.5(COL4A3):c.1917C>T (p.Pro639=) rs369320502 0.00004
NM_000091.5(COL4A3):c.3791T>C (p.Ile1264Thr) rs780533498 0.00004
NM_000091.5(COL4A3):c.934-6C>A rs369438839 0.00004
NM_000091.5(COL4A3):c.4700T>G (p.Ile1567Ser) rs371452712 0.00003
NM_000091.5(COL4A3):c.206A>C (p.Glu69Ala) rs755344973 0.00002
NM_000091.5(COL4A3):c.468+9T>C rs754471166 0.00002
NM_000091.5(COL4A3):c.898G>A (p.Gly300Arg) rs772708743 0.00002
NM_000091.5(COL4A3):c.1468G>C (p.Gly490Arg) rs1256505387 0.00001
NM_000091.5(COL4A3):c.1860C>T (p.Pro620=) rs376896231 0.00001
NM_000091.5(COL4A3):c.2452G>A (p.Gly818Arg) rs868002181 0.00001
NM_000091.5(COL4A3):c.281G>C (p.Gly94Ala) rs780287240 0.00001
NM_000091.5(COL4A3):c.343G>A (p.Gly115Arg) rs202147112 0.00001
NM_000091.5(COL4A3):c.3593G>A (p.Gly1198Asp) rs755849032 0.00001
NM_000091.5(COL4A3):c.3816T>C (p.Ser1272=) rs376887131 0.00001
NM_000091.5(COL4A3):c.441G>A (p.Pro147=) rs373559251 0.00001
NM_000091.5(COL4A3):c.443G>T (p.Gly148Val) rs775373641 0.00001
NM_000091.5(COL4A3):c.1026T>C (p.Gly342=)
NM_000091.5(COL4A3):c.1060G>A (p.Gly354Arg)
NM_000091.5(COL4A3):c.1132G>A (p.Gly378Arg) rs2125961933
NM_000091.5(COL4A3):c.127G>C (p.Gly43Arg) rs13424243
NM_000091.5(COL4A3):c.1364G>T (p.Gly455Val)
NM_000091.5(COL4A3):c.1495G>A (p.Gly499Arg)
NM_000091.5(COL4A3):c.1504+4C>A
NM_000091.5(COL4A3):c.1504+6A>T
NM_000091.5(COL4A3):c.1622G>A (p.Gly541Asp)
NM_000091.5(COL4A3):c.1622G>C (p.Gly541Ala)
NM_000091.5(COL4A3):c.1753G>A (p.Glu585Lys)
NM_000091.5(COL4A3):c.1777G>A (p.Gly593Arg)
NM_000091.5(COL4A3):c.1892G>T (p.Gly631Val) rs1315862965
NM_000091.5(COL4A3):c.2156C>G (p.Ser719Ter) rs1164505506
NM_000091.5(COL4A3):c.2184G>T (p.Glu728Asp)
NM_000091.5(COL4A3):c.222G>A (p.Pro74=) rs187950806
NM_000091.5(COL4A3):c.247C>G (p.Leu83Val)
NM_000091.5(COL4A3):c.2567G>T (p.Gly856Val)
NM_000091.5(COL4A3):c.2585G>C (p.Gly862Ala)
NM_000091.5(COL4A3):c.2684G>A (p.Gly895Asp) rs1553760558
NM_000091.5(COL4A3):c.3201G>A (p.Pro1067=) rs191829138
NM_000091.5(COL4A3):c.325-18G>T rs777117192
NM_000091.5(COL4A3):c.3312AAGTCCTGG[1] (p.1105SPG[1]) rs756539994
NM_000091.5(COL4A3):c.334_337del (p.Gly112fs)
NM_000091.5(COL4A3):c.3546_3548dup (p.Gly1183dup) rs1175052474
NM_000091.5(COL4A3):c.3566-7T>C
NM_000091.5(COL4A3):c.3713C>G (p.Thr1238Arg)
NM_000091.5(COL4A3):c.3756G>A (p.Ala1252=) rs112516617
NM_000091.5(COL4A3):c.387+7A>G
NM_000091.5(COL4A3):c.3883-3T>A
NM_000091.5(COL4A3):c.3883-9G>C
NM_000091.5(COL4A3):c.4332_4333del (p.Gly1445fs)
NM_000091.5(COL4A3):c.4396C>A (p.Pro1466Thr)
NM_000091.5(COL4A3):c.4414T>C (p.Ser1472Pro)
NM_000091.5(COL4A3):c.442-13_442-10del
NM_000091.5(COL4A3):c.4652G>T (p.Cys1551Phe)
NM_000091.5(COL4A3):c.468+10T>G rs760951747
NM_000091.5(COL4A3):c.4756-9T>C
NM_000091.5(COL4A3):c.4929-2A>C
NM_000091.5(COL4A3):c.4929-394_4929-392del
NM_000091.5(COL4A3):c.686G>A (p.Arg229Gln)
NM_000091.5(COL4A3):c.766-3dup
NM_000091.5(COL4A3):c.766-5G>A rs751236477
NM_000091.5(COL4A3):c.997G>A (p.Gly333Arg) rs761819520

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