ClinVar Miner

List of variants reported as likely pathogenic for Ehlers-Danlos syndrome, type 4

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Total variants: 54
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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.1173del (p.Pro392fs) rs1553507863
NM_000090.3(COL3A1):c.1196G>C (p.Gly399Ala) rs1060500194
NM_000090.3(COL3A1):c.1241G>T (p.Gly414Val) rs794728044
NM_000090.3(COL3A1):c.1294-1G>C rs1060500204
NM_000090.3(COL3A1):c.1351G>A (p.Glu451Lys) rs1559056438
NM_000090.3(COL3A1):c.1484G>A (p.Gly495Glu) rs1057524653
NM_000090.3(COL3A1):c.1509+2T>C rs1553508039
NM_000090.3(COL3A1):c.1708G>A (p.Gly570Ser) rs1553508238
NM_000090.3(COL3A1):c.1744G>T (p.Gly582Cys) rs121912923
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.1996G>A (p.Gly666Ser)
NM_000090.3(COL3A1):c.2067_2072del (p.Gly690_Ala691del)
NM_000090.3(COL3A1):c.2123G>T (p.Gly708Val) rs111929073
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.2752G>A (p.Gly918Arg) rs1085307896
NM_000090.3(COL3A1):c.2762G>A (p.Gly921Glu) rs1553509187
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.3040G>A (p.Gly1014Arg) rs1553509391
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.3266G>T (p.Gly1089Val)
NM_000090.3(COL3A1):c.3319G>A (p.Gly1107Arg) rs587779561
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.3491G>A (p.Gly1164Glu) rs587779431
NM_000090.3(COL3A1):c.3518G>A (p.Gly1173Glu) rs121912918
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.582+5G>A (p.Gly177_Pro194del) rs587779671
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.80-1G>C rs1559052551
NM_000090.3(COL3A1):c.827G>T (p.Gly276Val)
NM_000090.3(COL3A1):c.852+2T>C
NM_000090.3(COL3A1):c.944G>T (p.Gly315Val) rs587779487
NM_000090.3(COL3A1):c.998G>A (p.Gly333Asp) rs587779673

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