ClinVar Miner

Variants in gene COL4A1 with conflicting interpretations "likely benign" and "uncertain significance"

Submission 1 (likely benign) minimum review status: Submission 1 (likely benign) method:
Submission 2 (uncertain significance) minimum review status: Submission 2 (uncertain significance) method:
Gene type:
ClinVar version:
Total variants with conflicting interpretations: 48
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HGVS dbSNP gnomAD frequency
NM_001845.6(COL4A1):c.-103G>A rs538721412 0.00227
NM_001845.6(COL4A1):c.1466-6C>T rs183563055 0.00149
NM_001845.6(COL4A1):c.2542C>G (p.Gln848Glu) rs144207910 0.00068
NM_001845.6(COL4A1):c.2624C>G (p.Pro875Arg) rs201964644 0.00055
NM_001845.6(COL4A1):c.7C>A (p.Pro3Thr) rs751749989 0.00048
NM_001845.6(COL4A1):c.2669C>T (p.Pro890Leu) rs139859950 0.00035
NM_001845.6(COL4A1):c.1588C>T (p.Pro530Ser) rs145172612 0.00031
NM_001845.6(COL4A1):c.1735G>A (p.Val579Ile) rs141527136 0.00031
NM_001845.6(COL4A1):c.367C>T (p.Pro123Ser) rs138503916 0.00028
NM_001845.6(COL4A1):c.2126C>T (p.Pro709Leu) rs150129180 0.00025
NM_001845.6(COL4A1):c.329T>C (p.Ile110Thr) rs138269346 0.00021
NM_001845.6(COL4A1):c.3946C>G (p.Gln1316Glu) rs377122126 0.00020
NM_001845.6(COL4A1):c.3634A>T (p.Met1212Leu) rs199557190 0.00017
NM_001845.6(COL4A1):c.1753C>T (p.Arg585Cys) rs374223828 0.00015
NM_001845.6(COL4A1):c.3170T>C (p.Ile1057Thr) rs569940067 0.00015
NM_001845.6(COL4A1):c.3712C>T (p.Arg1238Cys) rs148801165 0.00015
NM_001845.6(COL4A1):c.4845G>A (p.Glu1615=) rs142326550 0.00014
NM_001845.6(COL4A1):c.2570C>T (p.Ser857Leu) rs145861489 0.00013
NM_001845.6(COL4A1):c.2285T>C (p.Val762Ala) rs374930028 0.00009
NM_001845.6(COL4A1):c.2903G>A (p.Arg968Gln) rs146288748 0.00009
NM_001845.6(COL4A1):c.4150+3G>A rs545498227 0.00009
NM_001845.6(COL4A1):c.2869+6T>C rs557198622 0.00008
NM_001845.6(COL4A1):c.4442G>A (p.Arg1481Gln) rs376607450 0.00007
NM_001845.6(COL4A1):c.4045C>T (p.Pro1349Ser) rs761077330 0.00005
NM_001845.6(COL4A1):c.1420G>A (p.Gly474Arg) rs752346924 0.00004
NM_001845.6(COL4A1):c.1754G>A (p.Arg585His) rs754034347 0.00004
NM_001845.6(COL4A1):c.2351C>T (p.Pro784Leu) rs372750171 0.00004
NM_001845.6(COL4A1):c.3019C>T (p.Pro1007Ser) rs141418421 0.00004
NM_001845.6(COL4A1):c.3997G>A (p.Asp1333Asn) rs141395813 0.00004
NM_001845.6(COL4A1):c.4640+3G>T rs770167198 0.00004
NM_001845.6(COL4A1):c.2216C>T (p.Pro739Leu) rs778390847 0.00003
NM_001845.6(COL4A1):c.3591C>T (p.Ala1197=) rs768381482 0.00003
NM_001845.6(COL4A1):c.4029G>A (p.Pro1343=) rs540983592 0.00003
NM_001845.6(COL4A1):c.1056G>A (p.Pro352=) rs531373470 0.00002
NM_001845.6(COL4A1):c.1897+7C>G rs773791331 0.00002
NM_001845.6(COL4A1):c.1990+4C>T rs771634502 0.00002
NM_001845.6(COL4A1):c.1990+7T>C rs773725275 0.00001
NM_001845.6(COL4A1):c.3505+4del rs749942977 0.00001
NM_001845.6(COL4A1):c.4271C>T (p.Pro1424Leu) rs760889798 0.00001
NM_001845.6(COL4A1):c.4796C>T (p.Ala1599Val) rs766472965 0.00001
NM_001845.6(COL4A1):c.553-10T>C rs370673476 0.00001
NM_001845.6(COL4A1):c.1605C>A (p.Phe535Leu)
NM_001845.6(COL4A1):c.2144G>A (p.Arg715His) rs199573161
NM_001845.6(COL4A1):c.2144G>T (p.Arg715Leu) rs199573161
NM_001845.6(COL4A1):c.3325+8A>C
NM_001845.6(COL4A1):c.3825A>G (p.Gly1275=)
NM_001845.6(COL4A1):c.4006G>A (p.Val1336Ile)
NM_001845.6(COL4A1):c.4151-10T>C

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