ClinVar Miner

List of variants reported as likely benign for X-linked Alport syndrome

Included ClinVar conditions (2):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 49
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HGVS dbSNP
NM_000091.4(COL4A3):c.*2145A>C rs115394347
NM_000091.4(COL4A3):c.*2182C>T rs114535536
NM_000091.4(COL4A3):c.*2228T>C rs367785196
NM_000091.4(COL4A3):c.*2837_*2839delATA rs137947510
NM_000091.4(COL4A3):c.*811A>C rs116568659
NM_000091.4(COL4A3):c.222G>T (p.Pro74=) rs187950806
NM_000091.4(COL4A3):c.3566-10T>C rs114719458
NM_000091.5(COL4A3):c.*1360T>A
NM_000091.5(COL4A3):c.1352A>G (p.His451Arg) rs11677877
NM_000091.5(COL4A3):c.1353C>T (p.His451=) rs189364374
NM_000091.5(COL4A3):c.2715C>T (p.Pro905=) rs75519005
NM_000092.4(COL4A4):c.*2311C>T rs77079951
NM_000092.4(COL4A4):c.*3636C>T rs147995299
NM_000092.4(COL4A4):c.*3690A>G rs149243282
NM_000092.4(COL4A4):c.*4164C>T rs147109071
NM_000092.4(COL4A4):c.*4491_*4494dup rs151077907
NM_000092.4(COL4A4):c.*472A>T rs77268230
NM_000092.4(COL4A4):c.*581G>A rs79659665
NM_000092.4(COL4A4):c.*841G>A rs11556632
NM_000092.4(COL4A4):c.-101-4A>G rs147186690
NM_000092.4(COL4A4):c.1833T>C (p.Gly611=) rs145806603
NM_000092.4(COL4A4):c.195T>C (p.Gly65=) rs201278620
NM_000092.4(COL4A4):c.198A>G (p.Pro66=) rs147947155
NM_000092.4(COL4A4):c.2008G>A (p.Val670Ile) rs34236495
NM_000092.4(COL4A4):c.2367A>T (p.Gly789=) rs56247709
NM_000092.4(COL4A4):c.2439A>T (p.Gly813=) rs34835657
NM_000092.4(COL4A4):c.2717-15C>A rs143886681
NM_000092.4(COL4A4):c.2717-5A>T rs1800519
NM_000092.4(COL4A4):c.2791G>A (p.Ala931Thr) rs75875272
NM_000092.4(COL4A4):c.2877C>T (p.Pro959=) rs79470996
NM_000092.4(COL4A4):c.2907A>C (p.Ser969=) rs116354015
NM_000092.4(COL4A4):c.3486A>G (p.Pro1162=) rs2229815
NM_000092.4(COL4A4):c.4082-8C>T rs139571413
NM_000092.4(COL4A4):c.4195A>T (p.Met1399Leu) rs149117087
NM_000092.4(COL4A4):c.4731G>A (p.Ala1577=) rs200639109
NM_000092.4(COL4A4):c.4857T>C (p.Pro1619=) rs184776061
NM_000092.4(COL4A4):c.5016A>G (p.Glu1672=) rs34761049
NM_000092.4(COL4A4):c.50A>G (p.Lys17Arg) rs114969026
NM_000092.5(COL4A4):c.*2239T>C
NM_000092.5(COL4A4):c.*718G>C
NM_000092.5(COL4A4):c.1202C>T (p.Ala401Val) rs199581317
NM_000092.5(COL4A4):c.1323T>C (p.Pro441=) rs35830639
NM_000092.5(COL4A4):c.2165-13del rs140965334
NM_000092.5(COL4A4):c.3871C>G (p.Pro1291Ala) rs34728338
NM_033380.3(COL4A5):c.1855C>T (p.Pro619Ser) rs1569494314
NM_033380.3(COL4A5):c.2858G>T (p.Gly953Val) rs78972735
NM_033380.3(COL4A5):c.4200A>G (p.Gly1400=) rs1603318167
NM_033380.3(COL4A5):c.4300C>A (p.Leu1434Met) rs1569508163
NM_033380.3(COL4A5):c.891+9T>G rs779787322

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