ClinVar Miner

List of variants in gene COL1A2 reported as uncertain significance for Ehlers-danlos syndrome, arthrochalasia type, 2

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Total variants: 56
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HGVS dbSNP gnomAD frequency
NM_000089.4(COL1A2):c.3283C>T (p.Pro1095Ser) rs370608825 0.00024
NM_000089.3(COL1A2):c.-428G>A rs753974789 0.00016
NM_000089.4(COL1A2):c.*545A>G rs761806166 0.00012
NM_000089.4(COL1A2):c.3792C>T (p.Ala1264=) rs745413783 0.00010
NM_000089.4(COL1A2):c.*131G>T rs777448399 0.00007
NM_000089.4(COL1A2):c.3632T>C (p.Ile1211Thr) rs201746779 0.00006
NM_000089.4(COL1A2):c.1555C>T (p.Arg519Trp) rs151256720 0.00005
NM_000089.4(COL1A2):c.3870C>T (p.Val1290=) rs926855674 0.00005
NM_000089.4(COL1A2):c.1051G>A (p.Ala351Thr) rs755610740 0.00004
NM_000089.4(COL1A2):c.*584A>T rs1469558350 0.00003
NM_000089.4(COL1A2):c.*601A>G rs1031022615 0.00003
NM_000089.4(COL1A2):c.1870C>G (p.Pro624Ala) rs886062517 0.00003
NM_000089.4(COL1A2):c.3014G>A (p.Arg1005His) rs200357942 0.00003
NM_000089.4(COL1A2):c.3493G>A (p.Asp1165Asn) rs754149044 0.00002
NM_000089.4(COL1A2):c.4012C>T (p.Arg1338Cys) rs781721538 0.00002
NM_000089.3(COL1A2):c.-188C>T rs886062512 0.00001
NM_000089.4(COL1A2):c.*193C>T rs1025438678 0.00001
NM_000089.4(COL1A2):c.*465G>T rs937283468 0.00001
NM_000089.4(COL1A2):c.*814A>G rs1584334060 0.00001
NM_000089.4(COL1A2):c.1089C>T (p.Pro363=) rs748961276 0.00001
NM_000089.4(COL1A2):c.1611+9T>A rs200333208 0.00001
NM_000089.4(COL1A2):c.1686T>A (p.Gly562=) rs1394933873 0.00001
NM_000089.4(COL1A2):c.1971+5G>A rs375027186 0.00001
NM_000089.4(COL1A2):c.279+12T>C rs751199493 0.00001
NM_000089.4(COL1A2):c.2797G>A (p.Asp933Asn) rs779358259 0.00001
NM_000089.4(COL1A2):c.3741C>T (p.Ser1247=) rs1792349319 0.00001
NM_000089.4(COL1A2):c.384T>A (p.Pro128=) rs767043956 0.00001
NM_000089.3(COL1A2):c.-150G>C rs1584310114
NM_000089.3(COL1A2):c.-152G>A rs769123288
NM_000089.3(COL1A2):c.-194C>T rs1180929889
NM_000089.3(COL1A2):c.-204T>G rs908653050
NM_000089.3(COL1A2):c.-264C>A rs182924222
NM_000089.3(COL1A2):c.-365A>G rs886062511
NM_000089.3(COL1A2):c.-397A>T rs1791544304
NM_000089.3(COL1A2):c.-418G>A rs939882798
NM_000089.4(COL1A2):c.*329A>G rs1235561698
NM_000089.4(COL1A2):c.*469A>G rs1792387263
NM_000089.4(COL1A2):c.*561T>C rs1792389230
NM_000089.4(COL1A2):c.*618T>C rs557107553
NM_000089.4(COL1A2):c.*638C>T rs1792391514
NM_000089.4(COL1A2):c.-87C>T rs886062513
NM_000089.4(COL1A2):c.1022_1033del (p.Ala341_Leu344del) rs1584319451
NM_000089.4(COL1A2):c.114A>G (p.Arg38=) rs1462108134
NM_000089.4(COL1A2):c.1186C>T (p.Pro396Ser) rs886062515
NM_000089.4(COL1A2):c.2187+14A>G rs1792135004
NM_000089.4(COL1A2):c.2569C>T (p.Pro857Ser) rs150179964
NM_000089.4(COL1A2):c.2894C>G (p.Pro965Arg) rs1437648908
NM_000089.4(COL1A2):c.3106-11T>C rs1792292305
NM_000089.4(COL1A2):c.3211C>A (p.Pro1071Thr) rs886062518
NM_000089.4(COL1A2):c.3270C>G (p.Gly1090=) rs548761767
NM_000089.4(COL1A2):c.3699T>C (p.Asn1233=) rs1792333529
NM_000089.4(COL1A2):c.3809A>G (p.Tyr1270Cys) rs886062519
NM_000089.4(COL1A2):c.3898C>T (p.Leu1300Phe) rs1725653924
NM_000089.4(COL1A2):c.475G>A (p.Val159Ile) rs886062514
NM_000089.4(COL1A2):c.594+15A>G rs1791795919
NM_000089.4(COL1A2):c.776G>C (p.Gly259Ala) rs1584318648

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