ClinVar Miner

List of variants reported as uncertain significance for Autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome; Brain small vessel disease 1 with or without ocular anomalies; Hemorrhage, intracerebral, susceptibility to; Retinal arterial tortuosity; Microangiopathy and leukoencephalopathy, pontine, autosomal dominant

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ClinVar version:
Total variants: 181
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HGVS dbSNP gnomAD frequency
NM_001845.6(COL4A1):c.2093A>G (p.Lys698Arg) rs375318302 0.00021
NM_001845.6(COL4A1):c.1820G>T (p.Gly607Val) rs148781420 0.00020
NM_001845.6(COL4A1):c.*137G>A rs886049956 0.00019
NM_001845.6(COL4A1):c.1454C>T (p.Pro485Leu) rs142177702 0.00014
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.502G>A (p.Gly168Arg) rs144171664 0.00008
NM_001845.6(COL4A1):c.2641A>G (p.Met881Val) rs775563545 0.00007
NM_001845.6(COL4A1):c.1427G>A (p.Arg476Gln) rs376673751 0.00006
NM_001845.6(COL4A1):c.1246C>G (p.Pro416Ala) rs773191976 0.00004
NM_001845.6(COL4A1):c.1366G>A (p.Glu456Lys) rs570739274 0.00004
NM_001845.6(COL4A1):c.1402C>T (p.Leu468Phe) rs757163211 0.00004
NM_001845.6(COL4A1):c.1754G>A (p.Arg585His) rs754034347 0.00004
NM_001845.6(COL4A1):c.2351C>T (p.Pro784Leu) rs372750171 0.00004
NM_001845.6(COL4A1):c.3997G>A (p.Asp1333Asn) rs141395813 0.00004
NM_001845.6(COL4A1):c.441C>T (p.Pro147=) rs201812821 0.00004
NM_001845.6(COL4A1):c.858+4A>T rs916106593 0.00004
NM_001845.6(COL4A1):c.1365C>T (p.Gly455=) rs576636085 0.00003
NM_001845.6(COL4A1):c.1613G>A (p.Arg538Gln) rs147361934 0.00003
NM_001845.6(COL4A1):c.1885C>G (p.Pro629Ala) rs769408707 0.00003
NM_001845.6(COL4A1):c.2216C>T (p.Pro739Leu) rs778390847 0.00003
NM_001845.6(COL4A1):c.3144G>T (p.Glu1048Asp) rs368949397 0.00003
NM_001845.6(COL4A1):c.4029G>A (p.Pro1343=) rs540983592 0.00003
NM_001845.6(COL4A1):c.430G>A (p.Ala144Thr) rs778175625 0.00003
NM_001845.6(COL4A1):c.859-8_859del rs1360123079 0.00003
NM_001845.6(COL4A1):c.994G>C (p.Gly332Arg) rs150182714 0.00003
NM_001845.6(COL4A1):c.1453C>G (p.Pro485Ala) rs747214508 0.00002
NM_001845.6(COL4A1):c.1495G>A (p.Asp499Asn) rs773778552 0.00002
NM_001845.6(COL4A1):c.1807C>T (p.Pro603Ser) rs747585517 0.00002
NM_001845.6(COL4A1):c.1847A>G (p.Asp616Gly) rs756221734 0.00002
NM_001845.6(COL4A1):c.196C>A (p.Gln66Lys) rs751220553 0.00002
NM_001845.6(COL4A1):c.3097C>T (p.Pro1033Ser) rs373131870 0.00002
NM_001845.6(COL4A1):c.3671C>T (p.Pro1224Leu) rs775810147 0.00002
NM_001845.6(COL4A1):c.4839C>T (p.Phe1613=) rs987149771 0.00002
NM_001845.6(COL4A1):c.4970C>T (p.Thr1657Met) rs779139113 0.00002
NM_001845.6(COL4A1):c.532C>T (p.Pro178Ser) rs777678272 0.00002
NM_001845.6(COL4A1):c.1091C>T (p.Pro364Leu) rs755483519 0.00001
NM_001845.6(COL4A1):c.1142C>T (p.Ala381Val) rs1200679947 0.00001
NM_001845.6(COL4A1):c.1672G>A (p.Ala558Thr) rs1878441079 0.00001
NM_001845.6(COL4A1):c.2080C>T (p.Pro694Ser) rs760462654 0.00001
NM_001845.6(COL4A1):c.2201C>G (p.Pro734Arg) rs527530568 0.00001
NM_001845.6(COL4A1):c.2314A>T (p.Ile772Phe) rs755499333 0.00001
NM_001845.6(COL4A1):c.2516C>T (p.Pro839Leu) rs763434858 0.00001
NM_001845.6(COL4A1):c.2517G>A (p.Pro839=) rs773443475 0.00001
NM_001845.6(COL4A1):c.2531A>T (p.Asp844Val) rs368902134 0.00001
NM_001845.6(COL4A1):c.2556C>T (p.Gly852=) rs1474061940 0.00001
NM_001845.6(COL4A1):c.2659C>T (p.Pro887Ser) rs1055161168 0.00001
NM_001845.6(COL4A1):c.3161C>T (p.Pro1054Leu) rs758076661 0.00001
NM_001845.6(COL4A1):c.3188G>A (p.Arg1063Gln) rs755532903 0.00001
NM_001845.6(COL4A1):c.3223C>T (p.Pro1075Ser) rs780691085 0.00001
NM_001845.6(COL4A1):c.3274A>G (p.Met1092Val) rs757670001 0.00001
NM_001845.6(COL4A1):c.38C>T (p.Pro13Leu) rs1031870898 0.00001
NM_001845.6(COL4A1):c.4166T>C (p.Val1389Ala) rs1357289362 0.00001
NM_001845.6(COL4A1):c.43G>A (p.Ala15Thr) rs991189007 0.00001
NM_001845.6(COL4A1):c.4462+3A>G rs201116557 0.00001
NM_001845.6(COL4A1):c.4856G>A (p.Arg1619His) rs747250117 0.00001
NM_001845.6(COL4A1):c.4967G>A (p.Arg1656His) rs756403856 0.00001
NM_001845.6(COL4A1):c.900T>A (p.Ser300Arg) rs370338256 0.00001
NM_001845.6(COL4A1):c.1034A>T (p.Glu345Val)
NM_001845.6(COL4A1):c.104G>A (p.Gly35Asp)
NM_001845.6(COL4A1):c.1092A>T (p.Pro364=) rs141208458
NM_001845.6(COL4A1):c.1114C>T (p.Pro372Ser)
NM_001845.6(COL4A1):c.1261C>T (p.Pro421Ser)
NM_001845.6(COL4A1):c.1326G>T (p.Gln442His)
NM_001845.6(COL4A1):c.1333C>G (p.Pro445Ala)
NM_001845.6(COL4A1):c.1333C>T (p.Pro445Ser) rs1878826024
NM_001845.6(COL4A1):c.136G>A (p.Gly46Arg)
NM_001845.6(COL4A1):c.145-3T>C
NM_001845.6(COL4A1):c.1451C>A (p.Pro484His)
NM_001845.6(COL4A1):c.1487C>G (p.Ala496Gly) rs1377162046
NM_001845.6(COL4A1):c.1605C>A (p.Phe535Leu)
NM_001845.6(COL4A1):c.1612C>T (p.Arg538Trp) rs397514624
NM_001845.6(COL4A1):c.1717A>C (p.Lys573Gln) rs1006335866
NM_001845.6(COL4A1):c.1728+3A>T
NM_001845.6(COL4A1):c.1740A>T (p.Gly580=)
NM_001845.6(COL4A1):c.1759C>G (p.Pro587Ala)
NM_001845.6(COL4A1):c.1769G>A (p.Gly590Glu) rs113994107
NM_001845.6(COL4A1):c.1790G>A (p.Arg597His) rs369724575
NM_001845.6(COL4A1):c.1823A>G (p.Tyr608Cys)
NM_001845.6(COL4A1):c.1890C>T (p.Gly630=)
NM_001845.6(COL4A1):c.1921A>C (p.Ile641Leu)
NM_001845.6(COL4A1):c.1938C>T (p.Gly646=)
NM_001845.6(COL4A1):c.1961C>T (p.Pro654Leu)
NM_001845.6(COL4A1):c.1962G>C (p.Pro654=)
NM_001845.6(COL4A1):c.1965G>T (p.Gly655=)
NM_001845.6(COL4A1):c.1991-12T>G
NM_001845.6(COL4A1):c.2028C>T (p.Gly676=)
NM_001845.6(COL4A1):c.2047G>A (p.Ala683Thr)
NM_001845.6(COL4A1):c.2111C>A (p.Pro704His)
NM_001845.6(COL4A1):c.2183A>G (p.Gln728Arg) rs1878139161
NM_001845.6(COL4A1):c.2204G>C (p.Gly735Ala)
NM_001845.6(COL4A1):c.2258C>A (p.Thr753Lys)
NM_001845.6(COL4A1):c.2277C>A (p.Ser759Arg) rs764059421
NM_001845.6(COL4A1):c.2344+18A>G
NM_001845.6(COL4A1):c.234G>A (p.Lys78=) rs905794416
NM_001845.6(COL4A1):c.2404G>T (p.Gly802Cys)
NM_001845.6(COL4A1):c.2416G>A (p.Ala806Thr)
NM_001845.6(COL4A1):c.241A>G (p.Thr81Ala)
NM_001845.6(COL4A1):c.2438A>G (p.Gln813Arg)
NM_001845.6(COL4A1):c.2579C>T (p.Pro860Leu)
NM_001845.6(COL4A1):c.2594A>G (p.Gln865Arg) rs776874008
NM_001845.6(COL4A1):c.2602G>A (p.Ala868Thr)
NM_001845.6(COL4A1):c.2605C>A (p.Pro869Thr)
NM_001845.6(COL4A1):c.2705C>T (p.Pro902Leu) rs146134172
NM_001845.6(COL4A1):c.283C>A (p.Pro95Thr)
NM_001845.6(COL4A1):c.2884A>G (p.Ile962Val)
NM_001845.6(COL4A1):c.2968+6G>A
NM_001845.6(COL4A1):c.3020C>T (p.Pro1007Leu)
NM_001845.6(COL4A1):c.3037G>A (p.Val1013Ile)
NM_001845.6(COL4A1):c.304C>G (p.Pro102Ala)
NM_001845.6(COL4A1):c.3054G>C (p.Leu1018Phe)
NM_001845.6(COL4A1):c.3059-12_3059-9del
NM_001845.6(COL4A1):c.3065C>T (p.Pro1022Leu)
NM_001845.6(COL4A1):c.3083C>T (p.Pro1028Leu)
NM_001845.6(COL4A1):c.3215C>T (p.Ala1072Val)
NM_001845.6(COL4A1):c.3267C>G (p.Ile1089Met)
NM_001845.6(COL4A1):c.328A>G (p.Ile110Val)
NM_001845.6(COL4A1):c.3323C>T (p.Pro1108Leu)
NM_001845.6(COL4A1):c.3358A>G (p.Lys1120Glu) rs1566349683
NM_001845.6(COL4A1):c.343G>A (p.Gly115Ser)
NM_001845.6(COL4A1):c.3458C>T (p.Pro1153Leu)
NM_001845.6(COL4A1):c.347C>T (p.Pro116Leu) rs538816765
NM_001845.6(COL4A1):c.3572T>G (p.Val1191Gly)
NM_001845.6(COL4A1):c.3585A>T (p.Gly1195=)
NM_001845.6(COL4A1):c.3665G>A (p.Gly1222Glu)
NM_001845.6(COL4A1):c.3692C>T (p.Thr1231Met)
NM_001845.6(COL4A1):c.3719C>G (p.Pro1240Arg)
NM_001845.6(COL4A1):c.3719C>T (p.Pro1240Leu)
NM_001845.6(COL4A1):c.3830C>T (p.Pro1277Leu)
NM_001845.6(COL4A1):c.3871A>G (p.Met1291Val)
NM_001845.6(COL4A1):c.3901A>G (p.Thr1301Ala)
NM_001845.6(COL4A1):c.4069G>T (p.Gly1357Trp)
NM_001845.6(COL4A1):c.4157C>G (p.Thr1386Arg)
NM_001845.6(COL4A1):c.41C>T (p.Ala14Val)
NM_001845.6(COL4A1):c.4209C>G (p.Ala1403=)
NM_001845.6(COL4A1):c.4234C>G (p.Pro1412Ala)
NM_001845.6(COL4A1):c.4249+9C>G
NM_001845.6(COL4A1):c.4291C>T (p.Pro1431Ser)
NM_001845.6(COL4A1):c.4349G>A (p.Arg1450Lys)
NM_001845.6(COL4A1):c.4370A>C (p.Asp1457Ala)
NM_001845.6(COL4A1):c.4372C>T (p.Pro1458Ser)
NM_001845.6(COL4A1):c.4376A>T (p.Gln1459Leu)
NM_001845.6(COL4A1):c.4412A>C (p.Tyr1471Ser)
NM_001845.6(COL4A1):c.4426G>A (p.Val1476Met)
NM_001845.6(COL4A1):c.4481T>A (p.Leu1494Gln)
NM_001845.6(COL4A1):c.4495A>G (p.Thr1499Ala)
NM_001845.6(COL4A1):c.4498A>G (p.Met1500Val)
NM_001845.6(COL4A1):c.44C>T (p.Ala15Val)
NM_001845.6(COL4A1):c.4505T>C (p.Phe1502Ser)
NM_001845.6(COL4A1):c.4555T>C (p.Tyr1519His)
NM_001845.6(COL4A1):c.4582CCCATG[3] (p.Met1531_Ser1532insProMet)
NM_001845.6(COL4A1):c.4591A>G (p.Met1531Val) rs1343193102
NM_001845.6(COL4A1):c.4640+10G>C
NM_001845.6(COL4A1):c.4648G>T (p.Val1550Leu)
NM_001845.6(COL4A1):c.468+5A>G
NM_001845.6(COL4A1):c.4727C>T (p.Ser1576Leu)
NM_001845.6(COL4A1):c.474T>G (p.Asp158Glu)
NM_001845.6(COL4A1):c.4756-20G>A
NM_001845.6(COL4A1):c.4832C>T (p.Ala1611Val)
NM_001845.6(COL4A1):c.4852G>A (p.Gly1618Ser)
NM_001845.6(COL4A1):c.4873T>G (p.Tyr1625Asp)
NM_001845.6(COL4A1):c.4900G>A (p.Ala1634Thr)
NM_001845.6(COL4A1):c.4960G>T (p.Glu1654Ter)
NM_001845.6(COL4A1):c.4966C>A (p.Arg1656Ser)
NM_001845.6(COL4A1):c.4966C>T (p.Arg1656Cys) rs377350886
NM_001845.6(COL4A1):c.5000GAA[1] (p.Arg1668del) rs1294802953
NM_001845.6(COL4A1):c.59A>G (p.Glu20Gly)
NM_001845.6(COL4A1):c.611C>T (p.Pro204Leu)
NM_001845.6(COL4A1):c.622C>G (p.Pro208Ala)
NM_001845.6(COL4A1):c.628C>T (p.Pro210Ser)
NM_001845.6(COL4A1):c.710G>T (p.Ser237Ile)
NM_001845.6(COL4A1):c.74C>G (p.Ala25Gly)
NM_001845.6(COL4A1):c.780G>A (p.Lys260=)
NM_001845.6(COL4A1):c.811A>G (p.Met271Val)
NM_001845.6(COL4A1):c.84+13C>T
NM_001845.6(COL4A1):c.84G>A (p.Lys28=)
NM_001845.6(COL4A1):c.86G>C (p.Gly29Ala)
NM_001845.6(COL4A1):c.872A>G (p.Lys291Arg)
NM_001845.6(COL4A1):c.903+4_903+5insATTTTTTGTATTTTT
NM_001845.6(COL4A1):c.919C>T (p.Pro307Ser)
NM_001845.6(COL4A1):c.944G>A (p.Arg315His)

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