ClinVar Miner

List of variants in gene COL7A1 reported as likely benign by Natera, Inc.

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 48
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HGVS dbSNP
NM_000094.3(COL7A1):c.2106C>T (p.Val702=) rs75551775
NM_000094.3(COL7A1):c.2367C>T (p.Ser789=) rs139521707
NM_000094.3(COL7A1):c.2544C>T (p.Val848=) rs139545952
NM_000094.3(COL7A1):c.2600C>T (p.Pro867Leu) rs191043504
NM_000094.3(COL7A1):c.2634C>T (p.Arg878=) rs201412774
NM_000094.3(COL7A1):c.2679G>A (p.Ala893=) rs374261595
NM_000094.3(COL7A1):c.3277-7A>G rs376192100
NM_000094.3(COL7A1):c.3605G>A (p.Arg1202His) rs149011081
NM_000094.3(COL7A1):c.3612G>A (p.Ala1204=) rs762604188
NM_000094.3(COL7A1):c.3816C>T (p.Gly1272=) rs138190232
NM_000094.3(COL7A1):c.3893G>A (p.Arg1298Lys) rs530442803
NM_000094.3(COL7A1):c.4613G>A (p.Arg1538His) rs2229824
NM_000094.3(COL7A1):c.4782+9A>T rs369635501
NM_000094.3(COL7A1):c.4968G>A (p.Glu1656=) rs779192809
NM_000094.3(COL7A1):c.4992A>C (p.Gly1664=) rs139988431
NM_000094.3(COL7A1):c.5058C>T (p.Ser1686=) rs144700737
NM_000094.3(COL7A1):c.573C>G (p.Thr191=) rs776540069
NM_000094.3(COL7A1):c.5769G>A (p.Glu1923=) rs143843471
NM_000094.3(COL7A1):c.59G>C (p.Arg20Pro) rs755340663
NM_000094.3(COL7A1):c.6188G>A (p.Arg2063Gln) rs2229825
NM_000094.3(COL7A1):c.6280-8G>A rs1343979395
NM_000094.3(COL7A1):c.630C>T (p.Leu210=) rs117857033
NM_000094.3(COL7A1):c.6357G>A (p.Pro2119=) rs142298581
NM_000094.3(COL7A1):c.6500C>T (p.Pro2167Leu) rs200473808
NM_000094.3(COL7A1):c.6502-10C>G rs200193957
NM_000094.3(COL7A1):c.6936+8T>C rs374882140
NM_000094.3(COL7A1):c.7080G>A (p.Gly2360=) rs768904830
NM_000094.3(COL7A1):c.7380+8G>A rs560853464
NM_000094.3(COL7A1):c.761C>T (p.Ala254Val) rs201916805
NM_000094.3(COL7A1):c.7758+10G>A rs371927547
NM_000094.3(COL7A1):c.8064C>T (p.Asp2688=) rs546054756
NM_000094.3(COL7A1):c.8095G>A (p.Glu2699Lys) rs200938473
NM_000094.3(COL7A1):c.8205C>T (p.Pro2735=) rs535006469
NM_000094.3(COL7A1):c.8322C>T (p.Ala2774=) rs142948995
NM_000094.3(COL7A1):c.8541T>C (p.Pro2847=) rs79473918
NM_000094.3(COL7A1):c.8568C>T (p.Ser2856=) rs148454724
NM_000094.3(COL7A1):c.945C>T (p.Ile315=) rs761431565
NM_000094.4(COL7A1):c.1242C>T rs373138319
NM_000094.4(COL7A1):c.1857A>G (p.Gly619=)
NM_000094.4(COL7A1):c.2553C>A rs577279100
NM_000094.4(COL7A1):c.3136C>A (p.Pro1046Thr)
NM_000094.4(COL7A1):c.3809C>T rs145068043
NM_000094.4(COL7A1):c.3840C>T (p.Thr1280=)
NM_000094.4(COL7A1):c.3937G>A (p.Ala1313Thr)
NM_000094.4(COL7A1):c.6312T>G (p.Ser2104=)
NM_000094.4(COL7A1):c.7191C>T rs34360255
NM_000094.4(COL7A1):c.7825A>G (p.Ile2609Val)
NM_000094.4(COL7A1):c.8819-3C>T rs148536949

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