ClinVar Miner

Variants in gene combination COL4A3, MFF-DT with conflicting interpretations reported as "likely pathogenic and "pathogenic"

Submission 1 (likely pathogenic) minimum review status: Submission 1 (likely pathogenic) method:
Submission 2 (pathogenic) minimum review status: Submission 2 (pathogenic) method:
Gene type:
ClinVar version:
Total variants with conflicting interpretations: 48
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HGVS dbSNP gnomAD frequency
NM_000091.5(COL4A3):c.4981C>T (p.Arg1661Cys) rs201697532 0.00039
NM_000091.5(COL4A3):c.2083G>A (p.Gly695Arg) rs200287952 0.00016
NM_000091.5(COL4A3):c.1096G>A (p.Gly366Arg) rs539765620 0.00005
NM_000091.5(COL4A3):c.1216C>T (p.Arg406Ter) rs371334239 0.00005
NM_000091.5(COL4A3):c.1450G>A (p.Gly484Arg) rs777401300 0.00003
NM_000091.5(COL4A3):c.4994G>A (p.Cys1665Tyr) rs376550779 0.00003
NM_000091.5(COL4A3):c.1372G>C (p.Gly458Arg) rs757341933 0.00002
NM_000091.5(COL4A3):c.2954G>T (p.Gly985Val) rs121912827 0.00002
NM_000091.5(COL4A3):c.391G>T (p.Glu131Ter) rs1346138010 0.00002
NM_000091.5(COL4A3):c.898G>A (p.Gly300Arg) rs772708743 0.00002
NM_000091.5(COL4A3):c.1855G>A (p.Gly619Arg) rs773515249 0.00001
NM_000091.5(COL4A3):c.1918G>A (p.Gly640Arg) rs200672668 0.00001
NM_000091.5(COL4A3):c.2371C>T (p.Arg791Ter) rs1060499654 0.00001
NM_000091.5(COL4A3):c.2452G>A (p.Gly818Arg) rs868002181 0.00001
NM_000091.5(COL4A3):c.272G>A (p.Gly91Asp) rs1414411811 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.3499G>A (p.Gly1167Arg) rs267606745 0.00001
NM_000091.5(COL4A3):c.4348C>T (p.Arg1450Ter) rs1189607438 0.00001
NM_000091.5(COL4A3):c.443G>T (p.Gly148Val) rs775373641 0.00001
NM_000091.5(COL4A3):c.4486C>T (p.Arg1496Ter) rs769863513 0.00001
NM_000091.5(COL4A3):c.520G>A (p.Gly174Arg) rs1014839148 0.00001
NM_000091.5(COL4A3):c.949_950del (p.Arg317fs) rs756133651 0.00001
NM_000091.5(COL4A3):c.1006G>T (p.Gly336Cys) rs1559873550
NM_000091.5(COL4A3):c.1132G>A (p.Gly378Arg) rs2125961933
NM_000091.5(COL4A3):c.1175G>A (p.Gly392Glu) rs1114167371
NM_000091.5(COL4A3):c.1184G>A (p.Gly395Glu) rs1131691738
NM_000091.5(COL4A3):c.1219G>C (p.Gly407Arg) rs1559878862
NM_000091.5(COL4A3):c.1354G>A (p.Gly452Arg) rs772958162
NM_000091.5(COL4A3):c.1504+1G>A rs1559882199
NM_000091.5(COL4A3):c.1933del (p.Arg645fs) rs1559890140
NM_000091.5(COL4A3):c.1937dup (p.Glu647fs) rs758444182
NM_000091.5(COL4A3):c.2156C>G (p.Ser719Ter) rs1164505506
NM_000091.5(COL4A3):c.2323_2340del (p.772LPG[1]) rs1306992119
NM_000091.5(COL4A3):c.2417dup (p.Gly807fs) rs1440033157
NM_000091.5(COL4A3):c.2507G>A (p.Gly836Glu) rs2072040353
NM_000091.5(COL4A3):c.2990G>A (p.Gly997Glu) rs1553762113
NM_000091.5(COL4A3):c.3044G>A (p.Gly1015Glu) rs121912826
NM_000091.5(COL4A3):c.3068_3069del (p.Pro1023fs) rs1064796094
NM_000091.5(COL4A3):c.3312AAGTCCTGG[1] (p.1105SPG[1]) rs756539994
NM_000091.5(COL4A3):c.334_337del (p.Gly112fs)
NM_000091.5(COL4A3):c.3546_3548dup (p.Gly1183dup) rs1175052474
NM_000091.5(COL4A3):c.3768del (p.Gly1257fs)
NM_000091.5(COL4A3):c.3882+5G>A rs1553764454
NM_000091.5(COL4A3):c.4546C>T (p.Arg1516Ter) rs759873621
NM_000091.5(COL4A3):c.4571C>G (p.Ser1524Ter) rs121912825
NM_000091.5(COL4A3):c.520G>T (p.Gly174Trp) rs1014839148
NM_000091.5(COL4A3):c.663_664del (p.Arg221fs) rs1469479748

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