ClinVar Miner

List of variants in gene COL1A1 reported as uncertain significance for Ehlers-Danlos syndrome type 7A

Included ClinVar conditions (4):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 57
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HGVS dbSNP
NM_000088.3(COL1A1):c.*1087C>T rs557843360
NM_000088.3(COL1A1):c.*1205C>G rs551536386
NM_000088.3(COL1A1):c.*1324A>G rs886053140
NM_000088.3(COL1A1):c.*194G>A rs886053158
NM_000088.3(COL1A1):c.*437A>C rs886053150
NM_000088.3(COL1A1):c.*623G>A rs886053149
NM_000088.3(COL1A1):c.*631G>A rs569577942
NM_000088.3(COL1A1):c.*682C>T rs77720683
NM_000088.3(COL1A1):c.*733G>A rs886053148
NM_000088.3(COL1A1):c.*795C>T rs886053147
NM_000088.3(COL1A1):c.*815A>G rs886053146
NM_000088.3(COL1A1):c.*981G>C rs574167621
NM_000088.3(COL1A1):c.-115G>A rs886053164
NM_000088.3(COL1A1):c.-66G>A rs565562045
NM_000088.3(COL1A1):c.-98G>C rs574683904
NM_000088.3(COL1A1):c.1005T>A (p.Gly335=) rs375914028
NM_000088.3(COL1A1):c.1042G>A (p.Ala348Thr) rs139955975
NM_000088.3(COL1A1):c.1233C>T (p.Phe411=) rs776387246
NM_000088.3(COL1A1):c.1375C>A (p.Pro459Thr) rs751299130
NM_000088.3(COL1A1):c.1669-10C>A rs886053162
NM_000088.3(COL1A1):c.1888G>A (p.Glu630Lys) rs775106436
NM_000088.3(COL1A1):c.1910C>G (p.Ala637Gly) rs886053161
NM_000088.3(COL1A1):c.2116G>A (p.Asp706Asn) rs372215246
NM_000088.3(COL1A1):c.2743C>T (p.Pro915Ser) rs756337302
NM_000088.3(COL1A1):c.3099+7T>G rs201682029
NM_000088.3(COL1A1):c.3169G>A (p.Val1057Ile) rs575285203
NM_000088.3(COL1A1):c.3233T>C (p.Val1078Ala) rs767525556
NM_000088.3(COL1A1):c.3630C>T (p.His1210=) rs745320719
NM_000088.3(COL1A1):c.3733A>T (p.Ile1245Phe) rs199514372
NM_000088.3(COL1A1):c.4092G>A (p.Gln1364=) rs886053160
NM_000088.3(COL1A1):c.4140G>C (p.Gln1380His) rs886053159
NM_000088.3(COL1A1):c.4196G>A (p.Arg1399His) rs146035171
NM_000088.3(COL1A1):c.649A>T (p.Met217Leu) rs763409550
NM_000088.3(COL1A1):c.77G>A (p.Gly26Asp)
NM_000088.3(COL1A1):c.957+15C>T rs779096006
NM_000088.4(COL1A1):c.*1011T>C
NM_000088.4(COL1A1):c.*1027G>T
NM_000088.4(COL1A1):c.*1151C>T
NM_000088.4(COL1A1):c.*120T>C
NM_000088.4(COL1A1):c.*1316C>G
NM_000088.4(COL1A1):c.*285C>A
NM_000088.4(COL1A1):c.*342C>A
NM_000088.4(COL1A1):c.*356T>A
NM_000088.4(COL1A1):c.*502C>T
NM_000088.4(COL1A1):c.*73C>A
NM_000088.4(COL1A1):c.*837G>A
NM_000088.4(COL1A1):c.1155+12C>T
NM_000088.4(COL1A1):c.1492G>A (p.Ala498Thr)
NM_000088.4(COL1A1):c.1554C>A (p.Gly518=)
NM_000088.4(COL1A1):c.2320C>G (p.Pro774Ala)
NM_000088.4(COL1A1):c.2424C>T (p.Pro808=)
NM_000088.4(COL1A1):c.2796C>T (p.Gly932=)
NM_000088.4(COL1A1):c.3247G>A (p.Ala1083Thr)
NM_000088.4(COL1A1):c.3333T>C (p.Arg1111=)
NM_000088.4(COL1A1):c.3987C>T (p.Ser1329=)
NM_000088.4(COL1A1):c.4197C>T (p.Arg1399=)
NM_000088.4(COL1A1):c.804+15A>C

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