ClinVar Miner

List of variants in gene combination COL4A3, MFF-DT reported as likely pathogenic by Invitae

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Total variants: 114
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HGVS dbSNP gnomAD frequency
NM_000091.5(COL4A3):c.2954G>T (p.Gly985Val) rs121912827 0.00002
NM_000091.5(COL4A3):c.1505-2A>C rs1247804051 0.00001
NM_000091.5(COL4A3):c.1855G>A (p.Gly619Arg) rs773515249 0.00001
NM_000091.5(COL4A3):c.1909G>A (p.Gly637Arg) rs761686437 0.00001
NM_000091.5(COL4A3):c.1927+2T>C rs1158937060 0.00001
NM_000091.5(COL4A3):c.2224-2A>G rs1246102682 0.00001
NM_000091.5(COL4A3):c.2488_2488+2del rs1363058249 0.00001
NM_000091.5(COL4A3):c.2747-1G>C rs1196996393 0.00001
NM_000091.5(COL4A3):c.343G>A (p.Gly115Arg) rs202147112 0.00001
NM_000091.5(COL4A3):c.3472G>C (p.Gly1158Arg) rs914878176 0.00001
NM_000091.5(COL4A3):c.3593G>A (p.Gly1198Asp) rs755849032 0.00001
NM_000091.5(COL4A3):c.3683G>T (p.Gly1228Val) rs1183958961 0.00001
NM_000091.5(COL4A3):c.3751+1G>A rs781566652 0.00001
NM_000091.5(COL4A3):c.4351C>G (p.His1451Asp) rs1291948462 0.00001
NM_000091.5(COL4A3):c.4755+1G>A rs1346132592 0.00001
NM_000091.5(COL4A3):c.765G>A (p.Thr255=) rs869025328 0.00001
NM_000091.5(COL4A3):c.1029+2T>G rs2125947143
NM_000091.5(COL4A3):c.1114+1G>A rs1286895614
NM_000091.5(COL4A3):c.1114+1G>T
NM_000091.5(COL4A3):c.1114+2T>C rs956551930
NM_000091.5(COL4A3):c.1373G>A (p.Gly458Glu) rs2125981183
NM_000091.5(COL4A3):c.1391G>A (p.Gly464Glu) rs2125981235
NM_000091.5(COL4A3):c.144+1G>C
NM_000091.5(COL4A3):c.145-2A>G
NM_000091.5(COL4A3):c.1504+1G>A rs1559882199
NM_000091.5(COL4A3):c.1540G>A (p.Gly514Arg) rs2071142257
NM_000091.5(COL4A3):c.1559G>A (p.Gly520Asp) rs1574745989
NM_000091.5(COL4A3):c.1576-2A>C rs1291012482
NM_000091.5(COL4A3):c.1594G>A (p.Gly532Ser) rs779575469
NM_000091.5(COL4A3):c.1688G>A (p.Gly563Glu)
NM_000091.5(COL4A3):c.1759-1G>A
NM_000091.5(COL4A3):c.1909G>C (p.Gly637Arg)
NM_000091.5(COL4A3):c.1928-1G>A rs1364800683
NM_000091.5(COL4A3):c.1928-2A>G
NM_000091.5(COL4A3):c.1984G>A (p.Gly662Arg) rs2106124828
NM_000091.5(COL4A3):c.2020+1G>T
NM_000091.5(COL4A3):c.2065G>A (p.Gly689Arg) rs1553758919
NM_000091.5(COL4A3):c.2126-1G>A rs2071831565
NM_000091.5(COL4A3):c.2215G>A (p.Gly739Arg) rs375040636
NM_000091.5(COL4A3):c.2216G>A (p.Gly739Glu) rs2106147774
NM_000091.5(COL4A3):c.2223+1G>A rs1553759476
NM_000091.5(COL4A3):c.2225G>A (p.Gly742Glu)
NM_000091.5(COL4A3):c.2330G>T (p.Gly777Val) rs2106151987
NM_000091.5(COL4A3):c.234+1G>A rs1240838887
NM_000091.5(COL4A3):c.235-1G>A rs2125904309
NM_000091.5(COL4A3):c.235-1G>C rs2125904309
NM_000091.5(COL4A3):c.2375-11_2384del
NM_000091.5(COL4A3):c.2375-2A>G rs2071916145
NM_000091.5(COL4A3):c.2375-2A>T rs2071916145
NM_000091.5(COL4A3):c.2401G>A (p.Gly801Arg)
NM_000091.5(COL4A3):c.2488+1G>T
NM_000091.5(COL4A3):c.2612G>T (p.Gly871Val) rs1402894646
NM_000091.5(COL4A3):c.2657-1G>T rs373324875
NM_000091.5(COL4A3):c.272G>C (p.Gly91Ala)
NM_000091.5(COL4A3):c.279+1G>A rs202001097
NM_000091.5(COL4A3):c.279+1G>T rs202001097
NM_000091.5(COL4A3):c.2801G>C (p.Gly934Ala) rs2106174926
NM_000091.5(COL4A3):c.2810G>A (p.Gly937Glu) rs1559899600
NM_000091.5(COL4A3):c.2882-2A>G rs2072527010
NM_000091.5(COL4A3):c.2882-916_2927del
NM_000091.5(COL4A3):c.2980+1G>A
NM_000091.5(COL4A3):c.3070+1G>A rs2106206598
NM_000091.5(COL4A3):c.3071-1G>A
NM_000091.5(COL4A3):c.3071-1G>T
NM_000091.5(COL4A3):c.324+1G>A rs2125906801
NM_000091.5(COL4A3):c.3337+1G>T
NM_000091.5(COL4A3):c.3338-1G>A
NM_000091.5(COL4A3):c.3418+1G>T
NM_000091.5(COL4A3):c.3419-1G>C
NM_000091.5(COL4A3):c.3419-2A>G
NM_000091.5(COL4A3):c.3419-5_3424del
NM_000091.5(COL4A3):c.344G>C (p.Gly115Ala)
NM_000091.5(COL4A3):c.3454G>C (p.Gly1152Arg) rs749383170
NM_000091.5(COL4A3):c.3463G>A (p.Gly1155Ser) rs774583962
NM_000091.5(COL4A3):c.3517+1G>A rs777495096
NM_000091.5(COL4A3):c.3518-2A>G rs2106237105
NM_000091.5(COL4A3):c.3546_3548dup (p.Gly1183dup) rs1175052474
NM_000091.5(COL4A3):c.3565+1G>A
NM_000091.5(COL4A3):c.3565+1del
NM_000091.5(COL4A3):c.3592G>A (p.Gly1198Ser) rs920061910
NM_000091.5(COL4A3):c.3752-2A>G rs2106250696
NM_000091.5(COL4A3):c.388-1G>T rs1553750900
NM_000091.5(COL4A3):c.388-2A>G rs2069361375
NM_000091.5(COL4A3):c.3883-1G>A
NM_000091.5(COL4A3):c.3883-2067_4311dup
NM_000091.5(COL4A3):c.3883-2A>G rs1553765265
NM_000091.5(COL4A3):c.3956-1G>A
NM_000091.5(COL4A3):c.398G>T (p.Gly133Val) rs750189238
NM_000091.5(COL4A3):c.4028-27A>G
NM_000091.5(COL4A3):c.4253-18_4283del rs2073564905
NM_000091.5(COL4A3):c.4253-1G>A
NM_000091.5(COL4A3):c.4353C>A (p.His1451Gln) rs886551469
NM_000091.5(COL4A3):c.441+2T>C rs2125911950
NM_000091.5(COL4A3):c.4640+1G>A rs1553766404
NM_000091.5(COL4A3):c.4640_4640+11del rs2106288671
NM_000091.5(COL4A3):c.469-2A>G rs2125916202
NM_000091.5(COL4A3):c.4972dup (p.Ile1658fs) rs2073752422
NM_000091.5(COL4A3):c.4973del (p.Ile1658fs) rs2106297951
NM_000091.5(COL4A3):c.4982G>C (p.Arg1661Pro)
NM_000091.5(COL4A3):c.4993T>A (p.Cys1665Ser) rs2106298115
NM_000091.5(COL4A3):c.547-2A>G rs2125924465
NM_000091.5(COL4A3):c.609+2_609+3del
NM_000091.5(COL4A3):c.610-1G>C
NM_000091.5(COL4A3):c.645+2T>C rs1553752199
NM_000091.5(COL4A3):c.687+1G>T rs2069903710
NM_000091.5(COL4A3):c.688-1G>A rs2069929443
NM_000091.5(COL4A3):c.766-2A>G rs2069985189
NM_000091.5(COL4A3):c.794G>A (p.Gly265Glu) rs2069988351
NM_000091.5(COL4A3):c.828+1G>C rs2125934710
NM_000091.5(COL4A3):c.828+2T>C rs1490688611
NM_000091.5(COL4A3):c.829-2A>C rs1553753119
NM_000091.5(COL4A3):c.829-2A>G
NM_000091.5(COL4A3):c.872G>A (p.Gly291Glu) rs1425230568
NM_000091.5(COL4A3):c.88-5976_195del

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