ClinVar Miner

List of variants in gene combination COL4A3, LOC654841 reported as pathogenic for Alport syndrome

Included ClinVar conditions (6):
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Gene type:
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Total variants: 33
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HGVS dbSNP
NM_000091.4(COL4A3):c.1175G>A (p.Gly392Glu) rs1114167371
NM_000091.4(COL4A3):c.1216C>T (p.Arg406Ter) rs371334239
NM_000091.4(COL4A3):c.1594G>T (p.Gly532Cys)
NM_000091.4(COL4A3):c.2031_2038dup (p.Gly680Aspfs) rs1553758893
NM_000091.4(COL4A3):c.2083G>A (p.Gly695Arg) rs200287952
NM_000091.4(COL4A3):c.2371C>T (p.Arg791Ter) rs1060499654
NM_000091.4(COL4A3):c.2452G>A (p.Gly818Arg) rs868002181
NM_000091.4(COL4A3):c.2621_2622delGAinsT (p.Gly874Valfs) rs1553760257
NM_000091.4(COL4A3):c.2768_2778del11 (p.Val923Glufs) rs766306957
NM_000091.4(COL4A3):c.3109C>T (p.Arg1037Ter) rs766900945
NM_000091.4(COL4A3):c.3230G>A (p.Gly1077Asp)
NM_000091.4(COL4A3):c.3244_3247delAAAG (p.Lys1082Glufs) rs1057516204
NM_000091.4(COL4A3):c.3266G>A (p.Gly1089Asp)
NM_000091.4(COL4A3):c.345delG (p.Pro116Leufs) rs749390823
NM_000091.4(COL4A3):c.3499G>A (p.Gly1167Arg) rs267606745
NM_000091.4(COL4A3):c.3575G>A (p.Gly1192Glu)
NM_000091.4(COL4A3):c.3813delG (p.Ser1272Leufs)
NM_000091.4(COL4A3):c.391G>T (p.Glu131Ter) rs1346138010
NM_000091.4(COL4A3):c.3955G>A (p.Gly1319Arg) rs765661521
NM_000091.4(COL4A3):c.4347_4353del7 (p.Arg1450Valfs) rs748026887
NM_000091.4(COL4A3):c.4382C>T (p.Pro1461Leu) rs760462252
NM_000091.4(COL4A3):c.4420_4424del5 (p.Leu1474Cysfs) rs1445615417
NM_000091.4(COL4A3):c.443G>T (p.Gly148Val) rs775373641
NM_000091.4(COL4A3):c.4441C>T (p.Arg1481Ter) rs121912824
NM_000091.4(COL4A3):c.4474A>T (p.Ser1492Cys) rs1057519377
NM_000091.4(COL4A3):c.4571C>G (p.Ser1524Ter) rs121912825
NM_000091.4(COL4A3):c.4803delT (p.Gly1602Alafs) rs760846085
NM_000091.4(COL4A3):c.765G>A (p.Thr255=) rs869025328
NM_000091.4(COL4A3):c.898G>A (p.Gly300Arg)
NM_000091.4(COL4A3):c.998G>C (p.Gly333Ala) rs1057519376
NM_000091.4(COL4A3):c.[3490G>T];[687G>A]
NM_000091.4:c.2162del
NM_000091.4:c.3580del

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