ClinVar Miner

List of variants reported as likely pathogenic for autosomal recessive Alport syndrome by Women's Health and Genetics/Laboratory Corporation of America, LabCorp

Included ClinVar conditions (7):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 24
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HGVS dbSNP gnomAD frequency
NM_000091.5(COL4A3):c.2083G>A (p.Gly695Arg) rs200287952 0.00016
NM_000091.5(COL4A3):c.1450G>A (p.Gly484Arg) rs777401300 0.00003
NM_000092.5(COL4A4):c.1223G>A (p.Gly408Glu) rs1026613471 0.00002
NM_000091.5(COL4A3):c.3210+1G>A rs1553762314 0.00001
NM_000091.5(COL4A3):c.343G>A (p.Gly115Arg) rs202147112 0.00001
NM_000091.5(COL4A3):c.443G>T (p.Gly148Val) rs775373641 0.00001
NM_000091.5(COL4A3):c.520G>A (p.Gly174Arg) rs1014839148 0.00001
NM_000092.5(COL4A4):c.2788G>A (p.Gly930Ser) rs748011297 0.00001
NM_000091.5(COL4A3):c.1150G>A (p.Gly384Arg) rs2070534871
NM_000091.5(COL4A3):c.1408+1G>T
NM_000091.5(COL4A3):c.2417dup (p.Gly807fs) rs1440033157
NM_000091.5(COL4A3):c.2764G>C (p.Gly922Arg) rs1405970656
NM_000091.5(COL4A3):c.3211-1G>C rs1553762936
NM_000091.5(COL4A3):c.3212G>C (p.Gly1071Ala) rs765128550
NM_000091.5(COL4A3):c.3575G>A (p.Gly1192Glu) rs1574823172
NM_000091.5(COL4A3):c.388-2A>G rs2069361375
NM_000091.5(COL4A3):c.4027+1G>C
NM_000091.5(COL4A3):c.4337_4338del (p.Phe1446fs) rs776244020
NM_000091.5(COL4A3):c.610-1G>A rs2469545357
NM_000091.5(COL4A3):c.778G>T (p.Glu260Ter) rs2125934541
NM_000092.5(COL4A4):c.1034del (p.Asp345fs)
NM_000092.5(COL4A4):c.2851G>A (p.Gly951Arg) rs1194269620
NM_000092.5(COL4A4):c.327+1_327+5del rs2476235922
NM_000092.5(COL4A4):c.81_86del (p.27IL[1]) rs771943519

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