ClinVar Miner

List of variants reported as likely pathogenic for X-linked Alport syndrome by Myriad Genetics, Inc.

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 70
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HGVS dbSNP gnomAD frequency
NM_033380.3(COL4A5):c.1075G>T (p.Gly359Ter) rs1569492122
NM_033380.3(COL4A5):c.1198G>T (p.Gly400Ter) rs2066424636
NM_033380.3(COL4A5):c.1378G>T (p.Gly460Ter) rs2066435557
NM_033380.3(COL4A5):c.1395del (p.Gly466fs)
NM_033380.3(COL4A5):c.1482_1483del (p.Gln495fs)
NM_033380.3(COL4A5):c.1748T>A (p.Leu583Ter)
NM_033380.3(COL4A5):c.182T>A (p.Leu61Ter) rs2065868148
NM_033380.3(COL4A5):c.216del (p.Pro73fs)
NM_033380.3(COL4A5):c.2180_2183del (p.Pro727fs)
NM_033380.3(COL4A5):c.2202_2204delinsA (p.Leu735fs)
NM_033380.3(COL4A5):c.2322del (p.Gly775fs)
NM_033380.3(COL4A5):c.2392A>T (p.Lys798Ter) rs1298839151
NM_033380.3(COL4A5):c.2422G>T (p.Gly808Ter) rs2066899099
NM_033380.3(COL4A5):c.2576del (p.Pro859fs)
NM_033380.3(COL4A5):c.2604del (p.Gly869fs) rs1556419850
NM_033380.3(COL4A5):c.2637_2638del (p.Pro880fs)
NM_033380.3(COL4A5):c.2653A>T (p.Lys885Ter) rs2067017511
NM_033380.3(COL4A5):c.2668G>T (p.Gly890Ter)
NM_033380.3(COL4A5):c.2683A>T (p.Lys895Ter)
NM_033380.3(COL4A5):c.2693_2697del (p.Met898fs)
NM_033380.3(COL4A5):c.272_275delinsCTTTTAAT (p.Ile91fs)
NM_033380.3(COL4A5):c.2764A>T (p.Lys922Ter) rs2067060145
NM_033380.3(COL4A5):c.2910_2912delinsA (p.Leu971fs)
NM_033380.3(COL4A5):c.2926G>T (p.Gly976Ter) rs2067108651
NM_033380.3(COL4A5):c.2949T>A (p.Tyr983Ter) rs2067109223
NM_033380.3(COL4A5):c.2957T>A (p.Leu986Ter) rs2067109423
NM_033380.3(COL4A5):c.295_296del (p.Gly99fs)
NM_033380.3(COL4A5):c.2992C>T (p.Gln998Ter) rs756070988
NM_033380.3(COL4A5):c.3002T>A (p.Leu1001Ter)
NM_033380.3(COL4A5):c.3043G>T (p.Gly1015Ter) rs2067140465
NM_033380.3(COL4A5):c.3151G>T (p.Gly1051Ter) rs2067151807
NM_033380.3(COL4A5):c.3179del (p.Gly1060fs)
NM_033380.3(COL4A5):c.3244A>T (p.Lys1082Ter) rs2067154422
NM_033380.3(COL4A5):c.3270C>A (p.Tyr1090Ter) rs2067818573
NM_033380.3(COL4A5):c.3371del (p.Pro1124fs)
NM_033380.3(COL4A5):c.3460G>T (p.Gly1154Ter)
NM_033380.3(COL4A5):c.3488del (p.Pro1163fs)
NM_033380.3(COL4A5):c.3535G>T (p.Gly1179Ter) rs104886240
NM_033380.3(COL4A5):c.3619G>T (p.Gly1207Ter) rs2068126785
NM_033380.3(COL4A5):c.367G>T (p.Gly123Ter)
NM_033380.3(COL4A5):c.3782_3783del (p.Gly1261fs)
NM_033380.3(COL4A5):c.3784A>T (p.Arg1262Ter)
NM_033380.3(COL4A5):c.3784del (p.Arg1262fs)
NM_033380.3(COL4A5):c.3955dup (p.Arg1319fs)
NM_033380.3(COL4A5):c.4021A>T (p.Lys1341Ter) rs2068413590
NM_033380.3(COL4A5):c.4057G>T (p.Glu1353Ter)
NM_033380.3(COL4A5):c.40_41del (p.Leu14fs)
NM_033380.3(COL4A5):c.4211T>A (p.Leu1404Ter)
NM_033380.3(COL4A5):c.4309C>T (p.Gln1437Ter) rs143778018
NM_033380.3(COL4A5):c.4313del (p.Pro1438fs)
NM_033380.3(COL4A5):c.4378_4379insA (p.Gly1460fs)
NM_033380.3(COL4A5):c.439G>T (p.Gly147Ter) rs2066069145
NM_033380.3(COL4A5):c.4410del (p.Thr1471fs)
NM_033380.3(COL4A5):c.4504A>T (p.Lys1502Ter)
NM_033380.3(COL4A5):c.4507del (p.Arg1503fs)
NM_033380.3(COL4A5):c.4609_4610del (p.Ser1537fs)
NM_033380.3(COL4A5):c.4631G>A (p.Trp1544Ter) rs104886293
NM_033380.3(COL4A5):c.469G>T (p.Glu157Ter)
NM_033380.3(COL4A5):c.4752_4753delinsA (p.Ser1584fs)
NM_033380.3(COL4A5):c.4762C>T (p.Gln1588Ter)
NM_033380.3(COL4A5):c.4783G>T (p.Gly1595Ter)
NM_033380.3(COL4A5):c.494C>G (p.Ser165Ter) rs2066099798
NM_033380.3(COL4A5):c.515del (p.Asn172fs)
NM_033380.3(COL4A5):c.67_68del (p.Pro23fs)
NM_033380.3(COL4A5):c.681_682del (p.Glu228fs)
NM_033380.3(COL4A5):c.694C>T (p.Gln232Ter)
NM_033380.3(COL4A5):c.703C>T (p.Gln235Ter)
NM_033380.3(COL4A5):c.710del (p.Pro237fs)
NM_033380.3(COL4A5):c.745A>T (p.Arg249Ter) rs2066188778
NM_033380.3(COL4A5):c.948_949del (p.Asp317fs)

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