ClinVar Miner

List of variants in gene combination COL5A1, LOC101448202 studied for Familial thoracic aortic aneurysm and aortic dissection

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Total variants: 143
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HGVS dbSNP gnomAD frequency
NM_000093.5(COL5A1):c.4560C>T (p.Ile1520=) rs2228559 0.03652
NM_000093.5(COL5A1):c.5190C>T (p.Phe1730=) rs61729481 0.01170
NM_000093.5(COL5A1):c.5151C>T (p.Asp1717=) rs61729558 0.00781
NM_000093.5(COL5A1):c.5407G>A (p.Asp1803Asn) rs61729495 0.00394
NM_000093.5(COL5A1):c.5270C>T (p.Thr1757Met) rs2229817 0.00346
NM_000093.5(COL5A1):c.4788G>C (p.Gly1596=) rs138436047 0.00116
NM_000093.5(COL5A1):c.4906G>A (p.Ala1636Thr) rs113452150 0.00092
NM_000093.5(COL5A1):c.4795G>C (p.Glu1599Gln) rs149212775 0.00083
NM_000093.5(COL5A1):c.4683A>C (p.Gly1561=) rs149959668 0.00034
NM_000093.5(COL5A1):c.4814C>T (p.Ala1605Val) rs145175057 0.00034
NM_000093.5(COL5A1):c.5182A>G (p.Met1728Val) rs138068984 0.00022
NM_000093.5(COL5A1):c.5349C>T (p.Arg1783=) rs140031713 0.00022
NM_000093.5(COL5A1):c.5060C>A (p.Ser1687Tyr) rs150083065 0.00018
NM_000093.5(COL5A1):c.4968C>T (p.Val1656=) rs201871481 0.00012
NM_000093.5(COL5A1):c.5280C>T (p.Tyr1760=) rs767284056 0.00012
NM_000093.5(COL5A1):c.4643C>T (p.Ser1548Leu) rs147398633 0.00011
NM_000093.5(COL5A1):c.4910G>A (p.Arg1637His) rs199998065 0.00011
NM_000093.5(COL5A1):c.4941C>T (p.Pro1647=) rs747549921 0.00011
NM_000093.5(COL5A1):c.4659G>A (p.Pro1553=) rs368782334 0.00010
NM_000093.5(COL5A1):c.5034G>A (p.Ser1678=) rs148006741 0.00010
NM_000093.5(COL5A1):c.4607C>T (p.Pro1536Leu) rs761837954 0.00009
NM_000093.5(COL5A1):c.5097C>G (p.Asn1699Lys) rs138396959 0.00009
NM_000093.5(COL5A1):c.5389A>C (p.Lys1797Gln) rs560106611 0.00009
NM_000093.5(COL5A1):c.5469G>C (p.Ala1823=) rs367657505 0.00009
NM_000093.5(COL5A1):c.5250G>A (p.Val1750=) rs200348547 0.00008
NM_000093.5(COL5A1):c.4658C>T (p.Pro1553Leu) rs530570306 0.00007
NM_000093.5(COL5A1):c.4717A>G (p.Ile1573Val) rs373448943 0.00007
NM_000093.5(COL5A1):c.5154C>T (p.Ala1718=) rs147434147 0.00007
NM_000093.5(COL5A1):c.5223C>T (p.Asn1741=) rs144081161 0.00007
NM_000093.5(COL5A1):c.5271G>A (p.Thr1757=) rs142886387 0.00007
NM_000093.5(COL5A1):c.4764C>T (p.Asp1588=) rs144672706 0.00006
NM_000093.5(COL5A1):c.5348G>A (p.Arg1783His) rs777045810 0.00006
NM_000093.5(COL5A1):c.4698G>A (p.Pro1566=) rs147904867 0.00005
NM_000093.5(COL5A1):c.4782C>T (p.Asp1594=) rs372971566 0.00005
NM_000093.5(COL5A1):c.4812C>T (p.Tyr1604=) rs542783734 0.00005
NM_000093.5(COL5A1):c.5293C>T (p.Arg1765Cys) rs199703883 0.00005
NM_000093.5(COL5A1):c.4473C>T (p.Ile1491=) rs537768945 0.00004
NM_000093.5(COL5A1):c.4521C>T (p.Gly1507=) rs552985514 0.00004
NM_000093.5(COL5A1):c.4536C>T (p.Ser1512=) rs367711669 0.00004
NM_000093.5(COL5A1):c.4785C>T (p.Asp1595=) rs149981025 0.00004
NM_000093.5(COL5A1):c.4803C>T (p.Tyr1601=) rs199637893 0.00004
NM_000093.5(COL5A1):c.4804G>A (p.Val1602Met) rs201771867 0.00004
NM_000093.5(COL5A1):c.4818C>T (p.Asp1606=) rs190912679 0.00004
NM_000093.5(COL5A1):c.4974T>C (p.Pro1658=) rs759203958 0.00004
NM_000093.5(COL5A1):c.5205C>T (p.Ser1735=) rs747118500 0.00004
NM_000093.5(COL5A1):c.5335A>G (p.Asn1779Asp) rs780400029 0.00004
NM_000093.5(COL5A1):c.5499G>A (p.Pro1833=) rs765397184 0.00004
NM_000093.5(COL5A1):c.4836C>T (p.Phe1612=) rs183904215 0.00003
NM_000093.5(COL5A1):c.4880G>A (p.Arg1627Gln) rs761802703 0.00003
NM_000093.5(COL5A1):c.4905C>T (p.Pro1635=) rs760426595 0.00003
NM_000093.5(COL5A1):c.5026G>C (p.Gly1676Arg) rs368448060 0.00003
NM_000093.5(COL5A1):c.5262C>T (p.Asp1754=) rs771317760 0.00003
NM_000093.5(COL5A1):c.4652C>T (p.Thr1551Ile) rs863223460 0.00002
NM_000093.5(COL5A1):c.4707G>A (p.Pro1569=) rs370009851 0.00002
NM_000093.5(COL5A1):c.4753C>T (p.Arg1585Trp) rs546865410 0.00002
NM_000093.5(COL5A1):c.4794C>T (p.Gly1598=) rs863223481 0.00002
NM_000093.5(COL5A1):c.4879C>T (p.Arg1627Trp) rs558906147 0.00002
NM_000093.5(COL5A1):c.5100G>A (p.Pro1700=) rs371875408 0.00002
NM_000093.5(COL5A1):c.5310C>T (p.Asn1770=) rs764817290 0.00002
NM_000093.5(COL5A1):c.5339C>A (p.Pro1780His) rs746104317 0.00002
NM_000093.5(COL5A1):c.5394G>A (p.Thr1798=) rs200515325 0.00002
NM_000093.5(COL5A1):c.5436C>T (p.Ile1812=) rs140744620 0.00002
NM_000093.5(COL5A1):c.5437G>A (p.Val1813Met) rs755914340 0.00002
NM_000093.5(COL5A1):c.5460C>T (p.Phe1820=) rs768460206 0.00002
NM_000093.5(COL5A1):c.4518T>C (p.Pro1506=) rs750313963 0.00001
NM_000093.5(COL5A1):c.4534T>G (p.Ser1512Ala) rs1008518818 0.00001
NM_000093.5(COL5A1):c.4554+3G>A rs370976850 0.00001
NM_000093.5(COL5A1):c.4554+5G>A rs375489070 0.00001
NM_000093.5(COL5A1):c.4613C>T (p.Pro1538Leu) rs775335297 0.00001
NM_000093.5(COL5A1):c.4749G>A (p.Thr1583=) rs775725420 0.00001
NM_000093.5(COL5A1):c.4765G>A (p.Ala1589Thr) rs377138881 0.00001
NM_000093.5(COL5A1):c.4783G>A (p.Asp1595Asn) rs748610273 0.00001
NM_000093.5(COL5A1):c.4791T>C (p.Asn1597=) rs886063677 0.00001
NM_000093.5(COL5A1):c.4815G>A (p.Ala1605=) rs755728242 0.00001
NM_000093.5(COL5A1):c.4911C>T (p.Arg1637=) rs778483767 0.00001
NM_000093.5(COL5A1):c.4928A>G (p.Gln1643Arg) rs730880064 0.00001
NM_000093.5(COL5A1):c.4934G>A (p.Cys1645Tyr) rs863223461 0.00001
NM_000093.5(COL5A1):c.4943A>G (p.Asp1648Gly) rs746071518 0.00001
NM_000093.5(COL5A1):c.5028G>T (p.Gly1676=) rs367902089 0.00001
NM_000093.5(COL5A1):c.5421G>A (p.Val1807=) rs1245708449 0.00001
NM_000093.5(COL5A1):c.5439G>T (p.Val1813=) rs886063678 0.00001
NM_000093.5(COL5A1):c.4464C>A (p.Ile1488=) rs148669237
NM_000093.5(COL5A1):c.4464C>T (p.Ile1488=) rs148669237
NM_000093.5(COL5A1):c.4482G>A (p.Pro1494=) rs2228560
NM_000093.5(COL5A1):c.4482G>C (p.Pro1494=) rs2228560
NM_000093.5(COL5A1):c.4482G>T (p.Pro1494=)
NM_000093.5(COL5A1):c.4503C>T (p.Gly1501=)
NM_000093.5(COL5A1):c.4523C>G (p.Pro1508Arg)
NM_000093.5(COL5A1):c.4530C>A (p.Gly1510=)
NM_000093.5(COL5A1):c.4554+4C>T
NM_000093.5(COL5A1):c.4584G>A (p.Gly1528=)
NM_000093.5(COL5A1):c.4608+4T>G
NM_000093.5(COL5A1):c.4609-3C>T
NM_000093.5(COL5A1):c.4623A>C (p.Pro1541=)
NM_000093.5(COL5A1):c.4650A>T (p.Pro1550=) rs778312075
NM_000093.5(COL5A1):c.4653T>C (p.Thr1551=)
NM_000093.5(COL5A1):c.4656C>T (p.Gly1552=)
NM_000093.5(COL5A1):c.4677C>T (p.His1559=)
NM_000093.5(COL5A1):c.4686C>G (p.Pro1562=)
NM_000093.5(COL5A1):c.4686C>T (p.Pro1562=)
NM_000093.5(COL5A1):c.4692C>A (p.Gly1564=) rs61735501
NM_000093.5(COL5A1):c.4692C>T (p.Gly1564=) rs61735501
NM_000093.5(COL5A1):c.4697dup (p.Glu1571fs) rs1131691996
NM_000093.5(COL5A1):c.4701C>T (p.Gly1567=)
NM_000093.5(COL5A1):c.4713G>C (p.Glu1571Asp)
NM_000093.5(COL5A1):c.4716C>T (p.Val1572=)
NM_000093.5(COL5A1):c.4755G>A (p.Arg1585=)
NM_000093.5(COL5A1):c.4758C>T (p.Asn1586=) rs139332528
NM_000093.5(COL5A1):c.4777C>T (p.Leu1593=) rs1318402758
NM_000093.5(COL5A1):c.4863G>T (p.Glu1621Asp) rs1064794238
NM_000093.5(COL5A1):c.4884C>G (p.Pro1628=) rs2132884435
NM_000093.5(COL5A1):c.4926G>A (p.Leu1642=) rs2132884637
NM_000093.5(COL5A1):c.4962C>T (p.Tyr1654=) rs998985081
NM_000093.5(COL5A1):c.5012G>T (p.Cys1671Phe) rs1554808357
NM_000093.5(COL5A1):c.5025C>G (p.Ala1675=) rs560774273
NM_000093.5(COL5A1):c.5025C>T (p.Ala1675=) rs560774273
NM_000093.5(COL5A1):c.5036C>A (p.Thr1679Lys) rs1554808365
NM_000093.5(COL5A1):c.5040C>T (p.Cys1680=)
NM_000093.5(COL5A1):c.5052C>T (p.Asp1684=)
NM_000093.5(COL5A1):c.5053AAG[1] (p.Lys1686del)
NM_000093.5(COL5A1):c.5061C>A (p.Ser1687=)
NM_000093.5(COL5A1):c.5061C>T (p.Ser1687=)
NM_000093.5(COL5A1):c.5083T>C (p.Trp1695Arg)
NM_000093.5(COL5A1):c.5085G>T (p.Trp1695Cys)
NM_000093.5(COL5A1):c.5139C>G (p.Leu1713=)
NM_000093.5(COL5A1):c.5145T>C (p.Tyr1715=)
NM_000093.5(COL5A1):c.5165dup (p.Val1723fs) rs1554726251
NM_000093.5(COL5A1):c.5171G>C (p.Gly1724Ala)
NM_000093.5(COL5A1):c.5243A>G (p.Gln1748Arg) rs2132925725
NM_000093.5(COL5A1):c.5247A>G (p.Ser1749=)
NM_000093.5(COL5A1):c.5264C>T (p.Ala1755Val)
NM_000093.5(COL5A1):c.5266G>A (p.Ala1756Thr) rs769947722
NM_000093.5(COL5A1):c.5267C>G (p.Ala1756Gly) rs1839802608
NM_000093.5(COL5A1):c.5274C>T (p.Gly1758=)
NM_000093.5(COL5A1):c.5295C>T (p.Arg1765=) rs1564187943
NM_000093.5(COL5A1):c.5350G>A (p.Ala1784Thr) rs143859495
NM_000093.5(COL5A1):c.5399T>C (p.Leu1800Pro)
NM_000093.5(COL5A1):c.5415C>T (p.Pro1805=) rs1002314921
NM_000093.5(COL5A1):c.5432C>T (p.Pro1811Leu) rs1554727362
NM_000093.5(COL5A1):c.5457C>T (p.Asp1819=)
NM_000093.5(COL5A1):c.5468C>T (p.Ala1823Val) rs747656987
NM_000093.5(COL5A1):c.5469G>A (p.Ala1823=) rs367657505
NM_000093.5(COL5A1):c.5495G>A (p.Gly1832Glu) rs1554727410

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