ClinVar Miner

List of variants in gene COL1A2 reported as uncertain significance for Ehlers-Danlos syndrome

Included ClinVar conditions (35):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 95
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HGVS dbSNP
NM_000089.3(COL1A2):c.*605A>G rs537557756
NM_000089.3(COL1A2):c.*618T>C rs557107553
NM_000089.3(COL1A2):c.-188C>T rs886062512
NM_000089.3(COL1A2):c.-365A>G rs886062511
NM_000089.3(COL1A2):c.-428G>A rs753974789
NM_000089.3(COL1A2):c.-87C>T rs886062513
NM_000089.3(COL1A2):c.1022_1033del (p.Ala341_Leu344del)
NM_000089.3(COL1A2):c.1036-12A>G rs41316929
NM_000089.3(COL1A2):c.1036-14G>T rs114322680
NM_000089.3(COL1A2):c.1048C>T (p.Pro350Ser) rs201463779
NM_000089.3(COL1A2):c.1051G>A (p.Ala351Thr) rs755610740
NM_000089.3(COL1A2):c.1148C>A (p.Pro383His) rs193922159
NM_000089.3(COL1A2):c.1186C>T (p.Pro396Ser) rs886062515
NM_000089.3(COL1A2):c.1228G>T (p.Ala410Ser)
NM_000089.3(COL1A2):c.1246G>A (p.Val416Ile) rs550867796
NM_000089.3(COL1A2):c.1252-6delG rs886062516
NM_000089.3(COL1A2):c.1295G>A (p.Arg432Gln) rs139446305
NM_000089.3(COL1A2):c.133-3C>A rs1562897561
NM_000089.3(COL1A2):c.1404+4A>C
NM_000089.3(COL1A2):c.1474A>T (p.Ile492Phe)
NM_000089.3(COL1A2):c.1564C>T (p.Pro522Ser) rs199732595
NM_000089.3(COL1A2):c.1654C>T (p.Pro552Ser) rs763695362
NM_000089.3(COL1A2):c.1780C>G (p.Pro594Ala) rs1396856908
NM_000089.3(COL1A2):c.1817T>C (p.Ile606Thr)
NM_000089.3(COL1A2):c.1866T>C (p.Gly622=) rs765470622
NM_000089.3(COL1A2):c.1870C>G (p.Pro624Ala) rs886062517
NM_000089.3(COL1A2):c.1908T>A (p.Ser636=)
NM_000089.3(COL1A2):c.1964G>A (p.Gly655Glu) rs1554397275
NM_000089.3(COL1A2):c.1971+3A>T
NM_000089.3(COL1A2):c.1971+5G>A rs375027186
NM_000089.3(COL1A2):c.1971+6T>C rs1345215762
NM_000089.3(COL1A2):c.1976A>G (p.Glu659Gly) rs766488808
NM_000089.3(COL1A2):c.2023C>T (p.Arg675Cys)
NM_000089.3(COL1A2):c.2025+9A>G rs368837694
NM_000089.3(COL1A2):c.2123G>C (p.Arg708Pro) rs72658163
NM_000089.3(COL1A2):c.2148_2156delinsACGTGG (p.Val717_Pro719delinsArgGly)
NM_000089.3(COL1A2):c.2168A>G (p.Asn723Ser) rs189374343
NM_000089.3(COL1A2):c.2168A>T (p.Asn723Ile)
NM_000089.3(COL1A2):c.2275G>A (p.Val759Ile) rs200501072
NM_000089.3(COL1A2):c.2329C>T (p.Arg777Cys)
NM_000089.3(COL1A2):c.2456G>A (p.Arg819His) rs773985005
NM_000089.3(COL1A2):c.2527G>A (p.Ala843Thr)
NM_000089.3(COL1A2):c.2563G>A (p.Ala855Thr) rs541473356
NM_000089.3(COL1A2):c.2566-6A>G rs141088934
NM_000089.3(COL1A2):c.2569C>T (p.Pro857Ser) rs150179964
NM_000089.3(COL1A2):c.2596C>G (p.Leu866Val)
NM_000089.3(COL1A2):c.2663C>G (p.Ala888Gly)
NM_000089.3(COL1A2):c.2713G>T (p.Ala905Ser) rs1344095248
NM_000089.3(COL1A2):c.2717G>A (p.Arg906His) rs147063981
NM_000089.3(COL1A2):c.279+12T>C rs751199493
NM_000089.3(COL1A2):c.2842C>A (p.Arg948Ser) rs779303344
NM_000089.3(COL1A2):c.2843G>A (p.Arg948His) rs201168934
NM_000089.3(COL1A2):c.286A>G (p.Met96Val) rs763509640
NM_000089.3(COL1A2):c.292C>T (p.Pro98Ser)
NM_000089.3(COL1A2):c.2960T>C (p.Val987Ala)
NM_000089.3(COL1A2):c.2968G>T (p.Ala990Ser)
NM_000089.3(COL1A2):c.2997+6T>A
NM_000089.3(COL1A2):c.3014G>A (p.Arg1005His) rs200357942
NM_000089.3(COL1A2):c.3047C>A (p.Pro1016His) rs377278762
NM_000089.3(COL1A2):c.3209A>C (p.His1070Pro) rs767399660
NM_000089.3(COL1A2):c.3211C>A (p.Pro1071Thr) rs886062518
NM_000089.3(COL1A2):c.3311G>A (p.Ser1104Asn) rs771438684
NM_000089.3(COL1A2):c.3319G>T (p.Gly1107Cys)
NM_000089.3(COL1A2):c.3338A>C (p.Asp1113Ala) rs1562908093
NM_000089.3(COL1A2):c.3368G>A (p.Arg1123His)
NM_000089.3(COL1A2):c.3368G>T (p.Arg1123Leu) rs145541630
NM_000089.3(COL1A2):c.3526+4G>A rs1284156162
NM_000089.3(COL1A2):c.3566A>G (p.Asp1189Gly) rs754575611
NM_000089.3(COL1A2):c.3625G>A (p.Glu1209Lys)
NM_000089.3(COL1A2):c.3632T>C (p.Ile1211Thr) rs201746779
NM_000089.3(COL1A2):c.3656G>A (p.Ser1219Asn) rs1554398702
NM_000089.3(COL1A2):c.3673C>T (p.His1225Tyr) rs535142482
NM_000089.3(COL1A2):c.3754A>G (p.Thr1252Ala) rs761465504
NM_000089.3(COL1A2):c.3809A>G (p.Tyr1270Cys) rs886062519
NM_000089.3(COL1A2):c.3815G>C (p.Cys1272Ser) rs1554398835
NM_000089.3(COL1A2):c.3835A>G (p.Met1279Val)
NM_000089.3(COL1A2):c.3853A>C (p.Asn1285His) rs144797861
NM_000089.3(COL1A2):c.3883T>C (p.Ser1295Pro) rs757449082
NM_000089.3(COL1A2):c.3941T>C (p.Val1314Ala) rs1421507234
NM_000089.3(COL1A2):c.4036C>T (p.Pro1346Ser) rs369008932
NM_000089.3(COL1A2):c.4063G>T (p.Glu1355Ter)
NM_000089.3(COL1A2):c.430G>A (p.Asp144Asn) rs981008420
NM_000089.3(COL1A2):c.475G>A (p.Val159Ile) rs886062514
NM_000089.3(COL1A2):c.52T>C (p.Cys18Arg) rs200278401
NM_000089.3(COL1A2):c.647G>A (p.Arg216His)
NM_000089.3(COL1A2):c.671G>A (p.Arg224His) rs771139732
NM_000089.3(COL1A2):c.693+12C>A rs767990110
NM_000089.3(COL1A2):c.701G>A (p.Arg234His) rs376341785
NM_000089.3(COL1A2):c.71C>G (p.Ser24Cys) rs763546006
NM_000089.3(COL1A2):c.781C>A (p.Pro261Thr)
NM_000089.3(COL1A2):c.781C>G (p.Pro261Ala)
NM_000089.3(COL1A2):c.81+8A>C rs765118884
NM_000089.3(COL1A2):c.880G>A (p.Val294Ile) rs145693444
NM_000089.3(COL1A2):c.892-13C>G rs200532328
NM_000089.3(COL1A2):c.949G>A (p.Val317Ile)

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