ClinVar Miner

List of variants in gene COL4A6 reported as likely benign for not provided

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 236
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HGVS dbSNP gnomAD frequency
NM_033641.4(COL4A6):c.4217-77A>G rs41300261 0.02918
NM_033641.4(COL4A6):c.2353+56G>A rs55655600 0.02819
NM_033641.4(COL4A6):c.1951+94A>G rs138181768 0.01918
NM_033641.4(COL4A6):c.3138+64C>T rs145357359 0.01050
NM_033641.4(COL4A6):c.2957-168dup rs200496786 0.00904
NC_000023.11:g.108439594A>G rs146083471 0.00899
NM_033641.4(COL4A6):c.3760G>T (p.Ala1254Ser) rs145388022 0.00827
NM_033641.4(COL4A6):c.4217-214del rs200708227 0.00807
NM_033641.4(COL4A6):c.279+242C>T rs182432265 0.00700
NM_033641.4(COL4A6):c.442-249C>T rs145886020 0.00686
NM_033641.4(COL4A6):c.4070-17C>T rs141656095 0.00646
NM_033641.4(COL4A6):c.4333+22A>G rs777010333 0.00565
NM_033641.4(COL4A6):c.904-294G>A rs139565944 0.00530
NM_033641.4(COL4A6):c.1427-95A>G rs73535891 0.00494
NM_033641.4(COL4A6):c.2686+80G>C rs142907132 0.00484
NM_033641.4(COL4A6):c.1073-344A>G rs138273335 0.00460
NM_001847.4(COL4A6):c.14+241T>A rs73638846 0.00427
NM_033641.4(COL4A6):c.144+290G>A rs73524855 0.00392
NM_033641.4(COL4A6):c.3692-149G>A rs191488490 0.00194
NM_033641.4(COL4A6):c.2371G>A (p.Gly791Ser) rs143895379 0.00169
NM_033641.4(COL4A6):c.688-179G>A rs771354088 0.00105
NM_033641.4(COL4A6):c.1886G>A (p.Arg629His) rs148929548 0.00100
NM_033641.4(COL4A6):c.2039G>A (p.Arg680Gln) rs146510405 0.00091
NM_033641.4(COL4A6):c.3138+17C>T rs369016527 0.00090
NM_033641.4(COL4A6):c.1676G>A (p.Arg559Gln) rs142508831 0.00077
NM_033641.4(COL4A6):c.646-46T>C rs188868017 0.00060
NM_033641.4(COL4A6):c.2807G>A (p.Arg936His) rs140519216 0.00054
NM_033641.4(COL4A6):c.1533A>G (p.Lys511=) rs139333183 0.00046
NM_033641.4(COL4A6):c.1556C>T (p.Ser519Phe) rs191837837 0.00041
NM_033641.4(COL4A6):c.444G>C (p.Gly148=) rs146748865 0.00041
NM_033641.4(COL4A6):c.4359C>T (p.Phe1453=) rs139555294 0.00040
NM_033641.4(COL4A6):c.2643C>A (p.Gly881=) rs755421435 0.00033
NM_033641.4(COL4A6):c.3070A>T (p.Ile1024Phe) rs144126512 0.00029
NM_033641.4(COL4A6):c.726A>C (p.Pro242=) rs149989161 0.00029
NM_033641.4(COL4A6):c.3871G>A (p.Gly1291Arg) rs201920507 0.00027
NM_033641.4(COL4A6):c.610-13A>T rs373533467 0.00027
NM_033641.4(COL4A6):c.2367G>T (p.Lys789Asn) rs148636080 0.00025
NM_033641.4(COL4A6):c.3886C>T (p.Pro1296Ser) rs138267158 0.00023
NM_033641.4(COL4A6):c.4488T>C (p.Phe1496=) rs139424040 0.00023
NM_033641.4(COL4A6):c.3455T>C (p.Ile1152Thr) rs201355021 0.00022
NM_033641.4(COL4A6):c.2806C>T (p.Arg936Cys) rs774641536 0.00021
NM_033641.4(COL4A6):c.3138+9_3138+12dup rs765695229 0.00015
NM_033641.4(COL4A6):c.3202+38T>G rs372005192 0.00015
NM_033641.4(COL4A6):c.1613C>T (p.Ser538Leu) rs775923727 0.00013
NM_001847.4(COL4A6):c.14+33T>C rs772986906 0.00011
NM_033641.4(COL4A6):c.3278-35G>T rs200479397 0.00011
NM_033641.4(COL4A6):c.2646T>G (p.Ser882=) rs771565093 0.00010
NM_033641.4(COL4A6):c.738G>C (p.Glu246Asp) rs151224348 0.00010
NM_033641.4(COL4A6):c.456G>A (p.Gln152=) rs752639069 0.00009
NM_033641.4(COL4A6):c.1180+29A>T rs201056680 0.00008
NM_033641.4(COL4A6):c.623C>G (p.Pro208Arg) rs2295919 0.00008
NM_033641.4(COL4A6):c.645T>G (p.Asp215Glu) rs753972832 0.00008
NM_033641.4(COL4A6):c.63+37C>G rs191763673 0.00007
NM_033641.4(COL4A6):c.4525+14C>G rs769785668 0.00006
NM_033641.4(COL4A6):c.2856C>T (p.Val952=) rs183856005 0.00005
NM_033641.4(COL4A6):c.3822C>T (p.Pro1274=) rs764946097 0.00005
NM_033641.4(COL4A6):c.3780C>T (p.Pro1260=) rs780112870 0.00004
NM_033641.4(COL4A6):c.4601A>G (p.Tyr1534Cys) rs150896729 0.00004
NM_033641.4(COL4A6):c.4730T>C (p.Ile1577Thr) rs374510545 0.00004
NM_033641.4(COL4A6):c.145-18T>C rs200532995 0.00003
NM_033641.4(COL4A6):c.1917A>T (p.Gly639=) rs372811674 0.00003
NM_033641.4(COL4A6):c.2013C>T (p.Pro671=) rs200299007 0.00003
NM_033641.4(COL4A6):c.2309G>A (p.Gly770Glu) rs774439639 0.00003
NM_033641.4(COL4A6):c.3579C>T (p.Thr1193=) rs370164057 0.00003
NM_033641.4(COL4A6):c.4073C>T (p.Ser1358Phe) rs202146097 0.00003
NM_033641.4(COL4A6):c.4224A>G (p.Lys1408=) rs757880489 0.00003
NM_033641.4(COL4A6):c.4482A>G (p.Leu1494=) rs761409521 0.00003
NM_033641.4(COL4A6):c.4550G>A (p.Arg1517His) rs367690342 0.00003
NM_033641.4(COL4A6):c.4623T>C (p.Ser1541=) rs764879526 0.00003
NM_033641.4(COL4A6):c.4993T>C (p.Leu1665=) rs767249186 0.00003
NM_033641.4(COL4A6):c.511-15G>A rs746600460 0.00003
NM_033641.4(COL4A6):c.833C>T (p.Pro278Leu) rs761681684 0.00003
NM_033641.4(COL4A6):c.1368C>T (p.Phe456=) rs770706189 0.00002
NM_033641.4(COL4A6):c.2577A>G (p.Lys859=) rs374008946 0.00002
NM_033641.4(COL4A6):c.2936A>G (p.Asn979Ser) rs756303853 0.00002
NM_033641.4(COL4A6):c.3645C>T (p.Ile1215=) rs1252478935 0.00002
NM_033641.4(COL4A6):c.4642G>A (p.Ala1548Thr) rs766360534 0.00002
NM_033641.4(COL4A6):c.4761G>A (p.Pro1587=) rs1250935332 0.00002
NM_033641.4(COL4A6):c.12-17C>T rs765535192 0.00001
NM_033641.4(COL4A6):c.1230C>T (p.Asp410=) rs760983966 0.00001
NM_033641.4(COL4A6):c.1987G>A (p.Gly663Ser) rs139988853 0.00001
NM_033641.4(COL4A6):c.2164C>T (p.Pro722Ser) rs748867663 0.00001
NM_033641.4(COL4A6):c.3663G>A (p.Pro1221=) rs767922218 0.00001
NM_033641.4(COL4A6):c.3678A>G (p.Gln1226=) rs113626960 0.00001
NM_033641.4(COL4A6):c.3711C>A (p.Gly1237=) rs1341591580 0.00001
NM_033641.4(COL4A6):c.3816A>C (p.Pro1272=) rs923188604 0.00001
NM_033641.4(COL4A6):c.3870C>T (p.Thr1290=) rs771062602 0.00001
NM_033641.4(COL4A6):c.442-17T>A rs780938346 0.00001
NM_033641.4(COL4A6):c.4974G>A (p.Glu1658=) rs780999356 0.00001
NM_033641.4(COL4A6):c.792G>A (p.Gly264=) rs754587637 0.00001
NM_033641.4(COL4A6):c.1005T>G (p.Gly335=)
NM_033641.4(COL4A6):c.1011G>A (p.Lys337=)
NM_033641.4(COL4A6):c.1059T>A (p.Gly353=)
NM_033641.4(COL4A6):c.1073-14C>T
NM_033641.4(COL4A6):c.1180+18A>G
NM_033641.4(COL4A6):c.12-17C>G
NM_033641.4(COL4A6):c.1247G>A (p.Arg416His)
NM_033641.4(COL4A6):c.129T>C (p.Pro43=)
NM_033641.4(COL4A6):c.1379G>T (p.Arg460Leu) rs34740537
NM_033641.4(COL4A6):c.1384G>A (p.Glu462Lys)
NM_033641.4(COL4A6):c.141G>A (p.Ala47=)
NM_033641.4(COL4A6):c.1426+16T>G
NM_033641.4(COL4A6):c.1427-15G>A
NM_033641.4(COL4A6):c.1427-4C>T
NM_033641.4(COL4A6):c.1452C>T (p.Asp484=)
NM_033641.4(COL4A6):c.1467C>A (p.Asn489Lys) rs781757715
NM_033641.4(COL4A6):c.1494A>C (p.Pro498=) rs2148148122
NM_033641.4(COL4A6):c.1731C>T (p.Asp577=)
NM_033641.4(COL4A6):c.1766C>T (p.Pro589Leu)
NM_033641.4(COL4A6):c.1767+12G>A
NM_033641.4(COL4A6):c.1767+9A>T
NM_033641.4(COL4A6):c.1768-13A>T
NM_033641.4(COL4A6):c.181G>A (p.Gly61Ser) rs1602850934
NM_033641.4(COL4A6):c.1941C>G (p.Pro647=)
NM_033641.4(COL4A6):c.1941C>T (p.Pro647=)
NM_033641.4(COL4A6):c.1951+14T>C
NM_033641.4(COL4A6):c.1986C>T (p.Tyr662=)
NM_033641.4(COL4A6):c.2024-13T>A
NM_033641.4(COL4A6):c.2075G>A (p.Ser692Asn)
NM_033641.4(COL4A6):c.2132-7C>T
NM_033641.4(COL4A6):c.2223C>T (p.Gly741=)
NM_033641.4(COL4A6):c.2230G>A (p.Gly744Ser)
NM_033641.4(COL4A6):c.2247T>C (p.Thr749=)
NM_033641.4(COL4A6):c.2283G>A (p.Gly761=)
NM_033641.4(COL4A6):c.2353+14C>A
NM_033641.4(COL4A6):c.2354-10C>T
NM_033641.4(COL4A6):c.2361C>T (p.His787=)
NM_033641.4(COL4A6):c.2516-12G>T
NM_033641.4(COL4A6):c.2529G>A (p.Lys843=)
NM_033641.4(COL4A6):c.2685G>T (p.Lys895Asn) rs150454971
NM_033641.4(COL4A6):c.2733T>C (p.Gly911=)
NM_033641.4(COL4A6):c.279+9A>G
NM_033641.4(COL4A6):c.2830+14T>C
NM_033641.4(COL4A6):c.2831-16A>G
NM_033641.4(COL4A6):c.2889C>T (p.Asn963=)
NM_033641.4(COL4A6):c.2910A>G (p.Lys970=)
NM_033641.4(COL4A6):c.2928C>T (p.Ala976=)
NM_033641.4(COL4A6):c.2956+20A>T
NM_033641.4(COL4A6):c.2957-9C>A
NM_033641.4(COL4A6):c.3075G>A (p.Arg1025=)
NM_033641.4(COL4A6):c.3105G>A (p.Gly1035=)
NM_033641.4(COL4A6):c.3138+10A>G
NM_033641.4(COL4A6):c.3138+11C>G
NM_033641.4(COL4A6):c.3139-5C>T
NM_033641.4(COL4A6):c.3202+123G>T rs188232078
NM_033641.4(COL4A6):c.3202+15T>G
NM_033641.4(COL4A6):c.3203-79dup rs1038562112
NM_033641.4(COL4A6):c.3269G>C (p.Gly1090Ala)
NM_033641.4(COL4A6):c.3278-10G>T
NM_033641.4(COL4A6):c.3381T>C (p.Ala1127=)
NM_033641.4(COL4A6):c.3386-13G>A
NM_033641.4(COL4A6):c.3486A>G (p.Gly1162=)
NM_033641.4(COL4A6):c.3494-12C>G
NM_033641.4(COL4A6):c.3565+12C>T
NM_033641.4(COL4A6):c.3566-8C>T
NM_033641.4(COL4A6):c.3610C>T (p.Pro1204Ser)
NM_033641.4(COL4A6):c.3687T>C (p.Asp1229=)
NM_033641.4(COL4A6):c.3691+10A>G rs2148075867
NM_033641.4(COL4A6):c.3691+16G>A
NM_033641.4(COL4A6):c.3692-16T>A
NM_033641.4(COL4A6):c.3692-8C>G
NM_033641.4(COL4A6):c.3705C>T (p.Leu1235=)
NM_033641.4(COL4A6):c.3732C>G (p.Ala1244=)
NM_033641.4(COL4A6):c.3888T>G (p.Pro1296=)
NM_033641.4(COL4A6):c.3900A>T (p.Gly1300=)
NM_033641.4(COL4A6):c.3919G>C (p.Asp1307His)
NM_033641.4(COL4A6):c.3971-10del
NM_033641.4(COL4A6):c.3971-9C>T
NM_033641.4(COL4A6):c.4050G>A (p.Lys1350=)
NM_033641.4(COL4A6):c.4070-10C>T
NM_033641.4(COL4A6):c.4070-15C>T
NM_033641.4(COL4A6):c.4086A>G (p.Gln1362=)
NM_033641.4(COL4A6):c.4143G>A (p.Leu1381=)
NM_033641.4(COL4A6):c.4182G>A (p.Gly1394=)
NM_033641.4(COL4A6):c.4217-14T>G
NM_033641.4(COL4A6):c.4217-25del rs755999199
NM_033641.4(COL4A6):c.4217-7C>G
NM_033641.4(COL4A6):c.4284T>C (p.Ala1428=)
NM_033641.4(COL4A6):c.4323A>T (p.Pro1441=)
NM_033641.4(COL4A6):c.4333+10dup
NM_033641.4(COL4A6):c.4333+16A>T
NM_033641.4(COL4A6):c.4333+18T>G
NM_033641.4(COL4A6):c.4333+19A>C
NM_033641.4(COL4A6):c.4333+19A>G
NM_033641.4(COL4A6):c.4333+19A>T
NM_033641.4(COL4A6):c.4333+25C>G rs770511393
NM_033641.4(COL4A6):c.4333+29C>G rs747645350
NM_033641.4(COL4A6):c.4333+9A>G
NM_033641.4(COL4A6):c.4334-20T>G
NM_033641.4(COL4A6):c.4344G>A (p.Gly1448=)
NM_033641.4(COL4A6):c.4350A>G (p.Gln1450=)
NM_033641.4(COL4A6):c.4413G>A (p.Lys1471=)
NM_033641.4(COL4A6):c.4440G>A (p.Pro1480=)
NM_033641.4(COL4A6):c.444G>A (p.Gly148=)
NM_033641.4(COL4A6):c.4452G>A (p.Gly1484=)
NM_033641.4(COL4A6):c.4521C>T (p.Asp1507=)
NM_033641.4(COL4A6):c.4525+12C>T
NM_033641.4(COL4A6):c.4525+17A>C
NM_033641.4(COL4A6):c.4587C>T (p.Asn1529=)
NM_033641.4(COL4A6):c.45C>T (p.Thr15=)
NM_033641.4(COL4A6):c.4674C>G (p.Thr1558=)
NM_033641.4(COL4A6):c.4737G>A (p.Val1579=)
NM_033641.4(COL4A6):c.4740C>T (p.His1580=)
NM_033641.4(COL4A6):c.4743C>T (p.Ser1581=)
NM_033641.4(COL4A6):c.4809C>T (p.Leu1603=)
NM_033641.4(COL4A6):c.4812+16G>C rs1569320001
NM_033641.4(COL4A6):c.4813-9_4813-6del rs751229643
NM_033641.4(COL4A6):c.4824T>C (p.Ala1608=)
NM_033641.4(COL4A6):c.494G>A (p.Ser165Asn)
NM_033641.4(COL4A6):c.5044C>T (p.Arg1682Cys)
NM_033641.4(COL4A6):c.511-6T>C
NM_033641.4(COL4A6):c.511-9G>A
NM_033641.4(COL4A6):c.519T>C (p.Pro173=)
NM_033641.4(COL4A6):c.522G>T (p.Gly174=)
NM_033641.4(COL4A6):c.546+15A>T
NM_033641.4(COL4A6):c.57A>G (p.Ala19=)
NM_033641.4(COL4A6):c.609+17C>T
NM_033641.4(COL4A6):c.609+7T>C
NM_033641.4(COL4A6):c.610-23_610-20del rs2148206881
NM_033641.4(COL4A6):c.616C>T (p.Pro206Ser)
NM_033641.4(COL4A6):c.646-19C>T
NM_033641.4(COL4A6):c.648G>A (p.Gly216=)
NM_033641.4(COL4A6):c.663T>C (p.Gly221=) rs2035521034
NM_033641.4(COL4A6):c.687+19A>G
NM_033641.4(COL4A6):c.687+20T>A
NM_033641.4(COL4A6):c.798G>A (p.Lys266=) rs2148196870
NM_033641.4(COL4A6):c.834+14T>C
NM_033641.4(COL4A6):c.834+9_834+12del
NM_033641.4(COL4A6):c.835-10T>G
NM_033641.4(COL4A6):c.853GAAAAGGGA[2] (p.285EKG[2]) rs772506311
NM_033641.4(COL4A6):c.853GAAAAGGGA[4] (p.285EKG[4]) rs772506311
NM_033641.4(COL4A6):c.882C>T (p.Ile294=)
NM_033641.4(COL4A6):c.904-10T>G
NM_033641.4(COL4A6):c.948+9G>C
NM_033641.4(COL4A6):c.949-16T>C
NM_033641.4(COL4A6):c.953A>G (p.Lys318Arg)

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