ClinVar Miner

List of variants in gene COL3A1 reported as likely pathogenic

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Gene type:
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Total variants: 107
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HGVS dbSNP
NC_000002.11:g.(?_189852807)_(189855783_?)dup
NM_000090.3(COL3A1):c.1052G>T (p.Gly351Val) rs587779498
NM_000090.3(COL3A1):c.1061_1062insTA (p.Pro355fs) rs1553507793
NM_000090.3(COL3A1):c.1106G>T (p.Gly369Val) rs1057521930
NM_000090.3(COL3A1):c.1151G>T (p.Gly384Val) rs794727181
NM_000090.3(COL3A1):c.1173del (p.Pro392fs) rs1553507863
NM_000090.3(COL3A1):c.1178G>A (p.Gly393Asp) rs1553507867
NM_000090.3(COL3A1):c.1196G>C (p.Gly399Ala) rs1060500194
NM_000090.3(COL3A1):c.1204G>A (p.Gly402Ser) rs1064797017
NM_000090.3(COL3A1):c.1223G>A (p.Gly408Glu) rs794728043
NM_000090.3(COL3A1):c.1232G>A (p.Gly411Glu) rs886038816
NM_000090.3(COL3A1):c.1241G>T (p.Gly414Val) rs794728044
NM_000090.3(COL3A1):c.1267G>A (p.Gly423Ser) rs587779631
NM_000090.3(COL3A1):c.1285G>A (p.Gly429Ser) rs1559056179
NM_000090.3(COL3A1):c.1294-1G>C rs1060500204
NM_000090.3(COL3A1):c.1330G>A (p.Gly444Arg) rs587779489
NM_000090.3(COL3A1):c.1351G>A (p.Glu451Lys) rs1559056438
NM_000090.3(COL3A1):c.1421G>T (p.Gly474Val) rs1553507991
NM_000090.3(COL3A1):c.1484G>A (p.Gly495Glu) rs1057524653
NM_000090.3(COL3A1):c.1484G>C (p.Gly495Ala) rs1057524653
NM_000090.3(COL3A1):c.1509+2T>C rs1553508039
NM_000090.3(COL3A1):c.1673_1722del (p.Gly558fs) rs1553508231
NM_000090.3(COL3A1):c.1691G>C (p.Gly564Ala) rs193922176
NM_000090.3(COL3A1):c.1708G>A (p.Gly570Ser) rs1553508238
NM_000090.3(COL3A1):c.1744G>A (p.Gly582Ser) rs121912923
NM_000090.3(COL3A1):c.1744G>T (p.Gly582Cys) rs121912923
NM_000090.3(COL3A1):c.1761+5G>A (p.Gly555_Asp587del) rs397509372
NM_000090.3(COL3A1):c.1762G>A (p.Gly588Ser) rs1553508338
NM_000090.3(COL3A1):c.1763G>A (p.Gly588Asp) rs587779691
NM_000090.3(COL3A1):c.1851_1855delinsAG (p.Gly618_Pro619delinsAla)
NM_000090.3(COL3A1):c.1977+5G>A
NM_000090.3(COL3A1):c.1978-1G>C rs1064796733
NM_000090.3(COL3A1):c.1988G>T (p.Gly663Val) rs587779454
NM_000090.3(COL3A1):c.1996G>A (p.Gly666Ser)
NM_000090.3(COL3A1):c.2042G>A (p.Gly681Asp)
NM_000090.3(COL3A1):c.2067_2072del (p.Gly690_Ala691del)
NM_000090.3(COL3A1):c.2069G>A (p.Gly690Glu) rs587779458
NM_000090.3(COL3A1):c.2123G>C (p.Gly708Ala) rs111929073
NM_000090.3(COL3A1):c.2123G>T (p.Gly708Val) rs111929073
NM_000090.3(COL3A1):c.2132G>T (p.Gly711Val) rs794728049
NM_000090.3(COL3A1):c.2159G>A (p.Gly720Asp)
NM_000090.3(COL3A1):c.2194G>A (p.Gly732Arg) rs587779606
NM_000090.3(COL3A1):c.2229+1G>A
NM_000090.3(COL3A1):c.2267G>A
NM_000090.3(COL3A1):c.2283+1G>A rs1559058970
NM_000090.3(COL3A1):c.2312G>A (p.Gly771Asp) rs1060500193
NM_000090.3(COL3A1):c.2464G>A (p.Gly822Ser) rs794728051
NM_000090.3(COL3A1):c.2536G>A (p.Gly846Arg)
NM_000090.3(COL3A1):c.2582G>A (p.Gly861Asp) rs1064796468
NM_000090.3(COL3A1):c.2608-2A>C rs1057523593
NM_000090.3(COL3A1):c.2689G>A (p.Gly897Ser) rs794728054
NM_000090.3(COL3A1):c.2752G>A (p.Gly918Arg) rs1085307896
NM_000090.3(COL3A1):c.2762G>A (p.Gly921Glu) rs1553509187
NM_000090.3(COL3A1):c.282+1G>C rs1131692024
NM_000090.3(COL3A1):c.2824G>A (p.Gly942Arg) rs587779438
NM_000090.3(COL3A1):c.2843G>A (p.Gly948Glu) rs878853651
NM_000090.3(COL3A1):c.2914G>A (p.Gly972Ser) rs587779723
NM_000090.3(COL3A1):c.2996G>T (p.Gly999Val) rs1085307964
NM_000090.3(COL3A1):c.3040G>A (p.Gly1014Arg) rs1553509391
NM_000090.3(COL3A1):c.3049G>A (p.Gly1017Arg) rs1553509397
NM_000090.3(COL3A1):c.3077G>T (p.Gly1026Val) rs1553509404
NM_000090.3(COL3A1):c.3093+1G>T rs869312034
NM_000090.3(COL3A1):c.3094-10_3094delinsGT rs1559061674
NM_000090.3(COL3A1):c.3103G>A (p.Gly1035Ser) rs587779704
NM_000090.3(COL3A1):c.3103G>T (p.Gly1035Cys) rs587779704
NM_000090.3(COL3A1):c.3112G>C (p.Gly1038Arg) rs1559061706
NM_000090.3(COL3A1):c.3202-2A>G (p.Gly1068_Pro1085del) rs587779682
NM_000090.3(COL3A1):c.3202G>T (p.Gly1068Cys) rs1559061954
NM_000090.3(COL3A1):c.3212G>T (p.Gly1071Val) rs587779709
NM_000090.3(COL3A1):c.3229G>A (p.Gly1077Ser) rs886038892
NM_000090.3(COL3A1):c.3257_3266delGTCCTCAAGG rs1553509575
NM_000090.3(COL3A1):c.3266G>T (p.Gly1089Val)
NM_000090.3(COL3A1):c.3319G>A (p.Gly1107Arg) rs587779561
NM_000090.3(COL3A1):c.3329G>A (p.Gly1110Glu) rs794728055
NM_000090.3(COL3A1):c.3356G>A (p.Gly1119Asp) rs587779639
NM_000090.3(COL3A1):c.3437G>A (p.Gly1146Glu) rs587779495
NM_000090.3(COL3A1):c.3440_3466del (p.Pro1147_Gly1155del)
NM_000090.3(COL3A1):c.3472G>C (p.Gly1158Arg) rs587779715
NM_000090.3(COL3A1):c.3491G>A (p.Gly1164Glu) rs587779431
NM_000090.3(COL3A1):c.3518G>A (p.Gly1173Glu) rs121912918
NM_000090.3(COL3A1):c.3554G>A (p.Gly1185Asp) rs121912917
NM_000090.3(COL3A1):c.3581G>A (p.Gly1194Asp) rs1553509744
NM_000090.3(COL3A1):c.3823+1G>T
NM_000090.3(COL3A1):c.4012-2A>G rs1559063681
NM_000090.3(COL3A1):c.4087C>T (p.Arg1363Ter) rs794728060
NM_000090.3(COL3A1):c.4096C>T (p.Gln1366Ter) rs863224860
NM_000090.3(COL3A1):c.4175T>G (p.Leu1392Arg) rs1553509934
NM_000090.3(COL3A1):c.447+1G>A rs1559053022
NM_000090.3(COL3A1):c.528+5G>C rs794728038
NM_000090.3(COL3A1):c.565G>A (p.Gly189Ser) rs587779507
NM_000090.3(COL3A1):c.582+5G>A (p.Gly177_Pro194del) rs587779671
NM_000090.3(COL3A1):c.584G>T (p.Gly195Val) rs1553507249
NM_000090.3(COL3A1):c.622C>T (p.Gln208Ter) rs746358771
NM_000090.3(COL3A1):c.638_639delinsAA (p.Gly213Glu) rs1553507345
NM_000090.3(COL3A1):c.754G>T (p.Gly252Cys) rs587779705
NM_000090.3(COL3A1):c.773G>C (p.Gly258Ala) rs1559054653
NM_000090.3(COL3A1):c.798_799delAG
NM_000090.3(COL3A1):c.80-1G>C rs1559052551
NM_000090.3(COL3A1):c.827G>T (p.Gly276Val)
NM_000090.3(COL3A1):c.842C>A (p.Pro281His) rs794728039
NM_000090.3(COL3A1):c.852+2T>C
NM_000090.3(COL3A1):c.898-2A>G rs1553507574
NM_000090.3(COL3A1):c.898G>C (p.Gly300Arg) rs587779481
NM_000090.3(COL3A1):c.944G>T (p.Gly315Val) rs587779487
NM_000090.3(COL3A1):c.962G>A (p.Gly321Asp) rs587779588
NM_000090.3(COL3A1):c.970G>A (p.Gly324Ser) rs587779650
NM_000090.3(COL3A1):c.998G>A (p.Gly333Asp) rs587779673

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