ClinVar Miner

List of variants in gene combination COL4A3, MFF-DT reported as uncertain significance for X-linked disease

Included ClinVar conditions (313):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 125
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HGVS dbSNP
NM_000091.4(COL4A3):c.*1000C>T rs770149608
NM_000091.4(COL4A3):c.*1032G>A rs886055744
NM_000091.4(COL4A3):c.*1069_*1070del rs11297279
NM_000091.4(COL4A3):c.*1069_*1070dup rs11297279
NM_000091.4(COL4A3):c.*1070del rs11297279
NM_000091.4(COL4A3):c.*1070dup rs11297279
NM_000091.4(COL4A3):c.*1071G>A rs866036167
NM_000091.4(COL4A3):c.*1645del rs886055747
NM_000091.4(COL4A3):c.*1739C>T rs750139996
NM_000091.4(COL4A3):c.*1764A>G rs577379452
NM_000091.4(COL4A3):c.*1918T>C rs767668198
NM_000091.4(COL4A3):c.*2048C>G rs886055748
NM_000091.4(COL4A3):c.*2180C>T rs886055749
NM_000091.4(COL4A3):c.*2272T>C rs886055750
NM_000091.4(COL4A3):c.*2308T>C rs886055751
NM_000091.4(COL4A3):c.*406G>A rs759265728
NM_000091.4(COL4A3):c.*647T>G rs183552783
NM_000091.4(COL4A3):c.*660T>C rs557009121
NM_000091.4(COL4A3):c.112C>G (p.Gln38Glu) rs201607115
NM_000091.4(COL4A3):c.1256C>A (p.Ser419Tyr) rs201031986
NM_000091.4(COL4A3):c.1295C>T (p.Pro432Leu) rs534253913
NM_000091.4(COL4A3):c.1367_1369del (p.Tyr456del) rs762420854
NM_000091.4(COL4A3):c.1423C>G (p.Leu475Val) rs886055738
NM_000091.4(COL4A3):c.1483C>T (p.His495Tyr) rs200510532
NM_000091.4(COL4A3):c.1516G>A (p.Ala506Thr) rs188967260
NM_000091.4(COL4A3):c.1927G>A (p.Gly643Ser) rs778034451
NM_000091.4(COL4A3):c.1928-4T>C rs376327706
NM_000091.4(COL4A3):c.2021-9G>C rs773021303
NM_000091.4(COL4A3):c.221C>T (p.Pro74Leu) rs373975901
NM_000091.4(COL4A3):c.2489-8G>A rs201846272
NM_000091.4(COL4A3):c.2747-11C>A rs886055739
NM_000091.4(COL4A3):c.2827G>A (p.Gly943Arg) rs1265432530
NM_000091.4(COL4A3):c.2881+6G>T rs886055740
NM_000091.4(COL4A3):c.3196C>T (p.Pro1066Ser) rs377003650
NM_000091.4(COL4A3):c.3228G>A (p.Pro1076=) rs200125890
NM_000091.4(COL4A3):c.3270A>C (p.Pro1090=) rs201989155
NM_000091.4(COL4A3):c.3325C>T (p.Pro1109Ser) rs55816283
NM_000091.4(COL4A3):c.3419-8T>G rs754483986
NM_000091.4(COL4A3):c.3566-9T>C rs147886850
NM_000091.4(COL4A3):c.3825C>T (p.His1275=) rs143380907
NM_000091.4(COL4A3):c.3829G>A (p.Gly1277Ser) rs190598500
NM_000091.4(COL4A3):c.386A>C (p.Lys129Thr) rs886055737
NM_000091.4(COL4A3):c.3882+10G>A rs78980950
NM_000091.4(COL4A3):c.3939G>A (p.Gly1313=) rs141552752
NM_000091.4(COL4A3):c.3945A>G (p.Pro1315=) rs189574905
NM_000091.4(COL4A3):c.4100G>C (p.Gly1367Ala) rs886055742
NM_000091.4(COL4A3):c.4153+10T>C rs865866667
NM_000091.4(COL4A3):c.4253-14T>C rs747386514
NM_000091.4(COL4A3):c.4482G>A (p.Leu1494=) rs181952966
NM_000091.4(COL4A3):c.4494C>G (p.Thr1498=) rs200454769
NM_000091.4(COL4A3):c.4510T>C (p.Phe1504Leu) rs201671013
NM_000091.4(COL4A3):c.4523A>G (p.Asn1508Ser) rs200512461
NM_000091.4(COL4A3):c.4691C>T (p.Thr1564Ile) rs886055743
NM_000091.4(COL4A3):c.4756-13A>T rs190701197
NM_000091.4(COL4A3):c.4825C>A (p.Arg1609=) rs756231749
NM_000091.4(COL4A3):c.4893C>T (p.Phe1631=) rs183218622
NM_000091.4(COL4A3):c.4981C>T (p.Arg1661Cys) rs201697532
NM_000091.4(COL4A3):c.516C>T (p.Asp172=) rs759455097
NM_000091.4(COL4A3):c.686G>T (p.Arg229Leu) rs188942711
NM_000091.4(COL4A3):c.688-8G>T rs748843785
NM_000091.5(COL4A3):c.*1238T>C
NM_000091.5(COL4A3):c.*1322T>A
NM_000091.5(COL4A3):c.*1340T>C
NM_000091.5(COL4A3):c.*1612A>G
NM_000091.5(COL4A3):c.*1634G>C
NM_000091.5(COL4A3):c.*1639G>A
NM_000091.5(COL4A3):c.*2087A>T
NM_000091.5(COL4A3):c.*2266A>G
NM_000091.5(COL4A3):c.*2565T>C
NM_000091.5(COL4A3):c.*261A>T
NM_000091.5(COL4A3):c.*2795T>C
NM_000091.5(COL4A3):c.*2836A>G
NM_000091.5(COL4A3):c.*2853A>C
NM_000091.5(COL4A3):c.*287G>A
NM_000091.5(COL4A3):c.*387A>C
NM_000091.5(COL4A3):c.*454G>T
NM_000091.5(COL4A3):c.*459T>C
NM_000091.5(COL4A3):c.*501T>C
NM_000091.5(COL4A3):c.*656T>A
NM_000091.5(COL4A3):c.*969G>A
NM_000091.5(COL4A3):c.1031C>T (p.Thr344Ile)
NM_000091.5(COL4A3):c.1150+4T>A
NM_000091.5(COL4A3):c.1238C>A (p.Ala413Asp)
NM_000091.5(COL4A3):c.1505-12G>A
NM_000091.5(COL4A3):c.1508G>A (p.Arg503Lys)
NM_000091.5(COL4A3):c.1576-6C>T
NM_000091.5(COL4A3):c.1637C>T (p.Pro546Leu)
NM_000091.5(COL4A3):c.1802C>T (p.Pro601Leu)
NM_000091.5(COL4A3):c.1849G>A (p.Gly617Ser)
NM_000091.5(COL4A3):c.1863A>G (p.Gln621=) rs771390525
NM_000091.5(COL4A3):c.1912C>T (p.Pro638Ser)
NM_000091.5(COL4A3):c.2125+13T>C
NM_000091.5(COL4A3):c.2282G>A (p.Arg761Lys) rs747356302
NM_000091.5(COL4A3):c.2475G>C (p.Leu825Phe)
NM_000091.5(COL4A3):c.2656+12T>A
NM_000091.5(COL4A3):c.2887G>A (p.Ala963Thr)
NM_000091.5(COL4A3):c.2919C>T (p.Gly973=)
NM_000091.5(COL4A3):c.3032G>A (p.Arg1011His)
NM_000091.5(COL4A3):c.3182G>A (p.Gly1061Asp) rs202078295
NM_000091.5(COL4A3):c.3211-13G>A
NM_000091.5(COL4A3):c.3258G>A (p.Gly1086=) rs147085074
NM_000091.5(COL4A3):c.3476G>A (p.Arg1159His) rs145948549
NM_000091.5(COL4A3):c.3518-15G>C
NM_000091.5(COL4A3):c.3644G>A (p.Arg1215Gln) rs200443942
NM_000091.5(COL4A3):c.3751+7G>A rs750554079
NM_000091.5(COL4A3):c.388-15T>C
NM_000091.5(COL4A3):c.3956-8_3956-5del rs779522146
NM_000091.5(COL4A3):c.3995C>G (p.Pro1332Arg)
NM_000091.5(COL4A3):c.4027+11G>T
NM_000091.5(COL4A3):c.4059T>C (p.Ile1353=) rs374672854
NM_000091.5(COL4A3):c.4501C>A (p.Pro1501Thr)
NM_000091.5(COL4A3):c.4677C>T (p.Ala1559=)
NM_000091.5(COL4A3):c.4678G>A (p.Val1560Ile)
NM_000091.5(COL4A3):c.468+9T>C rs754471166
NM_000091.5(COL4A3):c.4700T>G (p.Ile1567Ser) rs371452712
NM_000091.5(COL4A3):c.4712C>T (p.Pro1571Leu)
NM_000091.5(COL4A3):c.513C>T (p.Gly171=)
NM_000091.5(COL4A3):c.573T>C (p.Pro191=) rs375503109
NM_000091.5(COL4A3):c.610-11G>A
NM_000091.5(COL4A3):c.717A>G (p.Gly239=)
NM_000091.5(COL4A3):c.828+9T>C
NM_000091.5(COL4A3):c.829-15C>T
NM_000091.5(COL4A3):c.865G>A (p.Ala289Thr)
NM_000091.5(COL4A3):c.870T>C (p.Pro290=)
NM_000091.5(COL4A3):c.922C>T (p.Pro308Ser)

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