ClinVar Miner

List of variants in gene combination COL5A1, LOC101448202 reported as uncertain significance for Ehlers-Danlos syndrome, classic type, 1

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Total variants: 141
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HGVS dbSNP gnomAD frequency
NM_000093.5(COL5A1):c.4607C>T (p.Pro1536Leu) rs761837954 0.00009
NM_000093.5(COL5A1):c.4748C>T (p.Thr1583Met) rs375076580 0.00007
NM_000093.5(COL5A1):c.4892C>T (p.Thr1631Met) rs764446683 0.00006
NM_000093.5(COL5A1):c.5311G>A (p.Asp1771Asn) rs1005244744 0.00004
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.4819G>A (p.Gly1607Ser) rs753525012 0.00002
NM_000093.5(COL5A1):c.4848C>G (p.Asn1616Lys) rs747427505 0.00002
NM_000093.5(COL5A1):c.5371-8T>C rs1352923765 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.4831A>C (p.Ile1611Leu) rs754447923 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
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+4C>T
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.5204G>A (p.Ser1735Asn) rs1588615451
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.5305T>C (p.Ser1769Pro)
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.5415dup (p.Lys1806fs)
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.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)

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