ClinVar Miner

List of variants in gene COL4A2 reported as pathogenic for not provided

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Total variants: 34
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HGVS dbSNP gnomAD frequency
NM_001846.4(COL4A2):c.4147G>A (p.Gly1383Arg) rs797044947 0.00001
NM_001846.4(COL4A2):c.1166dup (p.Gly390fs)
NM_001846.4(COL4A2):c.1237G>T (p.Gly413Ter)
NM_001846.4(COL4A2):c.1289dup (p.Arg431fs)
NM_001846.4(COL4A2):c.1291C>T (p.Arg431Ter)
NM_001846.4(COL4A2):c.1311dup (p.Gly438fs)
NM_001846.4(COL4A2):c.1359del (p.Gly454fs)
NM_001846.4(COL4A2):c.1507_1513del (p.Gly503fs)
NM_001846.4(COL4A2):c.1542dup (p.Gly515fs)
NM_001846.4(COL4A2):c.1545_1546del (p.Asp516fs) rs2139493765
NM_001846.4(COL4A2):c.1547del (p.Asp516fs)
NM_001846.4(COL4A2):c.1570_1571del (p.Gly524fs)
NM_001846.4(COL4A2):c.1864G>T (p.Gly622Ter)
NM_001846.4(COL4A2):c.2032C>T (p.Gln678Ter) rs2139504287
NM_001846.4(COL4A2):c.2262_2274dup (p.Gly759fs)
NM_001846.4(COL4A2):c.2446del (p.Met816fs)
NM_001846.4(COL4A2):c.3126del (p.Gly1043fs) rs1268038830
NM_001846.4(COL4A2):c.3272G>A (p.Gly1091Asp)
NM_001846.4(COL4A2):c.3448C>T (p.Gln1150Ter) rs62621875
NM_001846.4(COL4A2):c.3466del (p.Gly1155_Leu1156insTer)
NM_001846.4(COL4A2):c.3490G>A (p.Gly1164Arg) rs1057519090
NM_001846.4(COL4A2):c.360+2T>C rs2139454253
NM_001846.4(COL4A2):c.3634+1G>A rs2139538797
NM_001846.4(COL4A2):c.3766C>T (p.Arg1256Ter)
NM_001846.4(COL4A2):c.3882_3891dup (p.Pro1298fs) rs2139552020
NM_001846.4(COL4A2):c.4095del (p.Asp1366fs)
NM_001846.4(COL4A2):c.4256delinsCG (p.Met1419fs)
NM_001846.4(COL4A2):c.4275dup (p.Gly1426fs) rs34603892
NM_001846.4(COL4A2):c.439C>T (p.Gln147Ter)
NM_001846.4(COL4A2):c.4698G>A (p.Trp1566Ter)
NM_001846.4(COL4A2):c.487G>T (p.Gly163Ter)
NM_001846.4(COL4A2):c.546T>A (p.Tyr182Ter)
NM_001846.4(COL4A2):c.799del (p.Val267fs)
NM_001846.4(COL4A2):c.883G>T (p.Glu295Ter)

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