ClinVar Miner

List of variants in gene combination COL5A1, LOC101448202 reported as uncertain significance by Labcorp Genetics (formerly Invitae), Labcorp

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 136
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_000093.5(COL5A1):c.5026G>C (p.Gly1676Arg) rs368448060 0.00003
NM_000093.5(COL5A1):c.4706C>T (p.Pro1569Leu) rs1297565068 0.00002
NM_000093.5(COL5A1):c.4739C>T (p.Ala1580Val) rs528826181 0.00002
NM_000093.5(COL5A1):c.4819G>A (p.Gly1607Ser) rs753525012 0.00002
NM_000093.5(COL5A1):c.4848C>G (p.Asn1616Lys) rs747427505 0.00002
NM_000093.5(COL5A1):c.5461G>A (p.Gly1821Ser) rs773709219 0.00002
NM_000093.5(COL5A1):c.4504G>A (p.Asp1502Asn) rs1422012959 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.4597C>G (p.Pro1533Ala) rs1839028918 0.00001
NM_000093.5(COL5A1):c.4608+3G>T rs1164584886 0.00001
NM_000093.5(COL5A1):c.4762G>A (p.Asp1588Asn) rs863223480 0.00001
NM_000093.5(COL5A1):c.4786G>A (p.Gly1596Arg) rs918778766 0.00001
NM_000093.5(COL5A1):c.4869G>T (p.Glu1623Asp) rs763091062 0.00001
NM_000093.5(COL5A1):c.4937A>G (p.His1646Arg) rs1273195387 0.00001
NM_000093.5(COL5A1):c.5128G>C (p.Gly1710Arg) rs1339470102 0.00001
NM_000093.5(COL5A1):c.5159G>A (p.Gly1720Asp) rs1243519195 0.00001
NM_000093.5(COL5A1):c.5234A>T (p.His1745Leu) rs370607849 0.00001
NM_000093.5(COL5A1):c.5314G>A (p.Glu1772Lys) rs759042440 0.00001
NM_000093.5(COL5A1):c.5372C>A (p.Thr1791Asn) rs1258210858 0.00001
NM_000093.5(COL5A1):c.5426A>C (p.Gln1809Pro) rs1830127790 0.00001
NM_000093.5(COL5A1):c.5497C>T (p.Pro1833Ser) rs370789226 0.00001
NC_000009.11:g.(?_137721802)_(137734169_?)dup
NC_000009.12:g.(?_134842137)_(134842323_?)del
NM_000093.5(COL5A1):c.4447G>T (p.Gly1483Cys) rs1554806963
NM_000093.5(COL5A1):c.4466G>A (p.Gly1489Glu) rs121912932
NM_000093.5(COL5A1):c.4477C>T (p.Pro1493Ser) rs1462918582
NM_000093.5(COL5A1):c.4487A>G (p.Glu1496Gly) rs1588589560
NM_000093.5(COL5A1):c.4495G>A (p.Glu1499Lys) rs1060502261
NM_000093.5(COL5A1):c.4537G>A (p.Gly1513Ser) rs1489565447
NM_000093.5(COL5A1):c.4550A>G (p.Glu1517Gly)
NM_000093.5(COL5A1):c.4554+6T>C
NM_000093.5(COL5A1):c.4564G>T (p.Gly1522Cys)
NM_000093.5(COL5A1):c.4566_4574del (p.Ser1524_Pro1526del)
NM_000093.5(COL5A1):c.4568C>A (p.Pro1523His) rs1378626783
NM_000093.5(COL5A1):c.4573G>A (p.Gly1525Ser) rs1564484053
NM_000093.5(COL5A1):c.4588C>G (p.Pro1530Ala)
NM_000093.5(COL5A1):c.4594C>T (p.Pro1532Ser) rs1839028504
NM_000093.5(COL5A1):c.4609G>C (p.Gly1537Arg) rs2132877751
NM_000093.5(COL5A1):c.4612C>A (p.Pro1538Thr) rs1554807720
NM_000093.5(COL5A1):c.4643C>G (p.Ser1548Trp)
NM_000093.5(COL5A1):c.4644+4A>G rs1478447420
NM_000093.5(COL5A1):c.4649C>T (p.Pro1550Leu)
NM_000093.5(COL5A1):c.4652C>G (p.Thr1551Ser) rs863223460
NM_000093.5(COL5A1):c.4654G>A (p.Gly1552Ser) rs1554807811
NM_000093.5(COL5A1):c.4657C>T (p.Pro1553Ser) rs1172057382
NM_000093.5(COL5A1):c.4669G>A (p.Ala1557Thr)
NM_000093.5(COL5A1):c.4694C>T (p.Pro1565Leu)
NM_000093.5(COL5A1):c.4696C>A (p.Pro1566Thr)
NM_000093.5(COL5A1):c.4697C>A (p.Pro1566Gln) rs375540141
NM_000093.5(COL5A1):c.4698+6T>G
NM_000093.5(COL5A1):c.4699-3C>G rs746861627
NM_000093.5(COL5A1):c.4711G>C (p.Glu1571Gln)
NM_000093.5(COL5A1):c.4751G>C (p.Arg1584Pro)
NM_000093.5(COL5A1):c.4753C>G (p.Arg1585Gly)
NM_000093.5(COL5A1):c.4796A>T (p.Glu1599Val)
NM_000093.5(COL5A1):c.4798A>G (p.Asn1600Asp)
NM_000093.5(COL5A1):c.4805_4813del (p.Val1602_Tyr1604del) rs752240390
NM_000093.5(COL5A1):c.4805_4813dup (p.Val1602_Tyr1604dup) rs752240390
NM_000093.5(COL5A1):c.4821C>T (p.Gly1607=)
NM_000093.5(COL5A1):c.4822A>T (p.Met1608Leu)
NM_000093.5(COL5A1):c.4823T>C (p.Met1608Thr)
NM_000093.5(COL5A1):c.4830G>C (p.Glu1610Asp)
NM_000093.5(COL5A1):c.4840T>G (p.Ser1614Ala)
NM_000093.5(COL5A1):c.4856A>G (p.Lys1619Arg)
NM_000093.5(COL5A1):c.4863G>T (p.Glu1621Asp) rs1064794238
NM_000093.5(COL5A1):c.4874T>C (p.Met1625Thr)
NM_000093.5(COL5A1):c.4897C>G (p.Gln1633Glu) rs1588598244
NM_000093.5(COL5A1):c.4910G>T (p.Arg1637Leu)
NM_000093.5(COL5A1):c.4921G>A (p.Asp1641Asn)
NM_000093.5(COL5A1):c.4936C>T (p.His1646Tyr) rs2132884669
NM_000093.5(COL5A1):c.4954+4A>G rs1564487377
NM_000093.5(COL5A1):c.4954+6G>C rs1031138847
NM_000093.5(COL5A1):c.4955G>A (p.Gly1652Asp) rs1206652736
NM_000093.5(COL5A1):c.4963T>C (p.Trp1655Arg)
NM_000093.5(COL5A1):c.4969G>T (p.Asp1657Tyr)
NM_000093.5(COL5A1):c.4982G>A (p.Gly1661Glu) rs1839242243
NM_000093.5(COL5A1):c.4987T>G (p.Ser1663Ala)
NM_000093.5(COL5A1):c.4990A>G (p.Arg1664Gly) rs1588599794
NM_000093.5(COL5A1):c.5009_5011dup (p.Tyr1670_Cys1671insTyr)
NM_000093.5(COL5A1):c.5012G>T (p.Cys1671Phe) rs1554808357
NM_000093.5(COL5A1):c.5015A>G (p.Asn1672Ser)
NM_000093.5(COL5A1):c.5026G>A (p.Gly1676Arg) rs368448060
NM_000093.5(COL5A1):c.5026G>T (p.Gly1676Trp) rs368448060
NM_000093.5(COL5A1):c.5036C>A (p.Thr1679Lys) rs1554808365
NM_000093.5(COL5A1):c.5039G>T (p.Cys1680Phe) rs1588599870
NM_000093.5(COL5A1):c.5062G>C (p.Glu1688Gln)
NM_000093.5(COL5A1):c.5065G>A (p.Gly1689Arg) rs1839245619
NM_000093.5(COL5A1):c.5066G>T (p.Gly1689Val)
NM_000093.5(COL5A1):c.5067+4A>G rs2132887922
NM_000093.5(COL5A1):c.5067+5G>A
NM_000093.5(COL5A1):c.5071A>G (p.Arg1691Gly)
NM_000093.5(COL5A1):c.5081C>T (p.Ser1694Phe) rs1564183635
NM_000093.5(COL5A1):c.5086C>T (p.Pro1696Ser)
NM_000093.5(COL5A1):c.5105C>T (p.Ser1702Phe)
NM_000093.5(COL5A1):c.5110T>C (p.Phe1704Leu)
NM_000093.5(COL5A1):c.5112C>T (p.Phe1704=)
NM_000093.5(COL5A1):c.5126G>T (p.Arg1709Leu)
NM_000093.5(COL5A1):c.5136G>T (p.Leu1712=)
NM_000093.5(COL5A1):c.5159G>T (p.Gly1720Val) rs1243519195
NM_000093.5(COL5A1):c.5164C>A (p.Pro1722Thr) rs1839797107
NM_000093.5(COL5A1):c.5167G>A (p.Val1723Met)
NM_000093.5(COL5A1):c.5173G>A (p.Val1725Met) rs972629744
NM_000093.5(COL5A1):c.5228C>G (p.Thr1743Ser)
NM_000093.5(COL5A1):c.5236T>A (p.Cys1746Ser)
NM_000093.5(COL5A1):c.5260G>A (p.Asp1754Asn)
NM_000093.5(COL5A1):c.5267C>G (p.Ala1756Gly) rs1839802608
NM_000093.5(COL5A1):c.5288C>T (p.Ala1763Val)
NM_000093.5(COL5A1):c.5291T>A (p.Leu1764His) rs2132925845
NM_000093.5(COL5A1):c.5303G>A (p.Gly1768Asp) rs1588615582
NM_000093.5(COL5A1):c.5308A>G (p.Asn1770Asp) rs2132926010
NM_000093.5(COL5A1):c.5310C>G (p.Asn1770Lys) rs764817290
NM_000093.5(COL5A1):c.5318A>G (p.Glu1773Gly)
NM_000093.5(COL5A1):c.5320A>G (p.Met1774Val)
NM_000093.5(COL5A1):c.5321T>C (p.Met1774Thr) rs1554726285
NM_000093.5(COL5A1):c.5342_5343insTGACAA (p.Tyr1781_Ile1782insAspAsn) rs2132926191
NM_000093.5(COL5A1):c.5345T>A (p.Ile1782Asn) rs1403819684
NM_000093.5(COL5A1):c.5348G>C (p.Arg1783Pro)
NM_000093.5(COL5A1):c.5360A>G (p.Asp1787Gly)
NM_000093.5(COL5A1):c.5371-17_5371-16delinsCC
NM_000093.5(COL5A1):c.5411C>G (p.Thr1804Ser) rs755260686
NM_000093.5(COL5A1):c.5413C>T (p.Pro1805Ser) rs554332661
NM_000093.5(COL5A1):c.5414C>A (p.Pro1805His) rs377563294
NM_000093.5(COL5A1):c.5416A>G (p.Lys1806Glu) rs1830127605
NM_000093.5(COL5A1):c.5419G>A (p.Val1807Met)
NM_000093.5(COL5A1):c.5420T>A (p.Val1807Glu) rs1588621758
NM_000093.5(COL5A1):c.5432C>T (p.Pro1811Leu) rs1554727362
NM_000093.5(COL5A1):c.5464G>A (p.Glu1822Lys)
NM_000093.5(COL5A1):c.5473C>T (p.Gln1825Ter) rs1057518004
NM_000093.5(COL5A1):c.5476A>C (p.Lys1826Gln)
NM_000093.5(COL5A1):c.5485T>G (p.Phe1829Val)
NM_000093.5(COL5A1):c.5491G>A (p.Val1831Met)
NM_000093.5(COL5A1):c.5494G>C (p.Gly1832Arg)
NM_000093.5(COL5A1):c.5495G>A (p.Gly1832Glu) rs1554727410
NM_000093.5(COL5A1):c.5495G>C (p.Gly1832Ala)
NM_000093.5(COL5A1):c.5513G>A (p.Gly1838Asp)

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.