ClinVar Miner

List of variants reported as pathogenic for Autosomal recessive Alport syndrome; Hematuria, benign familial, 1 by Fulgent Genetics, Fulgent Genetics

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Total variants: 49
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HGVS dbSNP gnomAD frequency
NM_000092.5(COL4A4):c.2906C>G (p.Ser969Ter) rs35138315 0.00011
NM_000092.5(COL4A4):c.5045G>A (p.Arg1682Gln) rs368404711 0.00010
NM_000092.5(COL4A4):c.338G>A (p.Gly113Asp) rs766085522 0.00009
NM_000092.5(COL4A4):c.3022G>A (p.Gly1008Arg) rs371172166 0.00007
NM_000092.5(COL4A4):c.2986G>A (p.Gly996Arg) rs370474706 0.00004
NM_000092.5(COL4A4):c.1223G>A (p.Gly408Glu) rs1026613471 0.00002
NM_000092.5(COL4A4):c.2590G>A (p.Gly864Arg) rs937550597 0.00002
NM_000092.5(COL4A4):c.2752G>A (p.Gly918Arg) rs372606845 0.00002
NM_000092.5(COL4A4):c.481G>C (p.Gly161Arg) rs755961411 0.00002
NM_000092.5(COL4A4):c.1045C>T (p.Arg349Ter) rs534522842 0.00001
NM_000092.5(COL4A4):c.1145G>C (p.Gly382Ala) rs751952236 0.00001
NM_000092.5(COL4A4):c.1396G>A (p.Gly466Arg) rs201859109 0.00001
NM_000092.5(COL4A4):c.1441G>A (p.Gly481Ser) rs181528936 0.00001
NM_000092.5(COL4A4):c.1579G>T (p.Gly527Cys) rs779930511 0.00001
NM_000092.5(COL4A4):c.1598G>A (p.Gly533Asp) rs1553669704 0.00001
NM_000092.5(COL4A4):c.2617G>A (p.Gly873Arg) rs929684384 0.00001
NM_000092.5(COL4A4):c.2690G>A (p.Gly897Glu) rs121912860 0.00001
NM_000092.5(COL4A4):c.4129C>T (p.Arg1377Ter) rs121912861 0.00001
NM_000092.5(COL4A4):c.4288G>A (p.Gly1430Arg) rs775926807 0.00001
NM_000092.5(COL4A4):c.489+1G>A rs1040287646 0.00001
NM_000092.5(COL4A4):c.735+2T>C rs2060993180 0.00001
NM_000092.5(COL4A4):c.755G>T (p.Gly252Val) rs760795817 0.00001
NM_000092.5(COL4A4):c.1352G>A (p.Gly451Asp)
NM_000092.5(COL4A4):c.1505del (p.Pro502fs) rs2475031974
NM_000092.5(COL4A4):c.1505dup (p.Gly503fs)
NM_000092.5(COL4A4):c.1580del (p.Gly527fs) rs2059732983
NM_000092.5(COL4A4):c.193-2A>C rs2125038490
NM_000092.5(COL4A4):c.2383+1G>A rs2474215752
NM_000092.5(COL4A4):c.2385del rs1975778377
NM_000092.5(COL4A4):c.2529_2537delinsAT (p.Tyr844fs)
NM_000092.5(COL4A4):c.2638del (p.Ala880fs) rs778043831
NM_000092.5(COL4A4):c.2869G>A (p.Gly957Arg) rs1402343399
NM_000092.5(COL4A4):c.2908C>T (p.Gln970Ter) rs372413045
NM_000092.5(COL4A4):c.2967_2968del (p.Arg989_Gly990insTer) rs748473278
NM_000092.5(COL4A4):c.3052G>C (p.Gly1018Arg)
NM_000092.5(COL4A4):c.3636_3637del (p.Gly1213fs) rs2473354582
NM_000092.5(COL4A4):c.3704del (p.Pro1235fs) rs754706338
NM_000092.5(COL4A4):c.3817+1G>A
NM_000092.5(COL4A4):c.3817+1G>T
NM_000092.5(COL4A4):c.3967C>T (p.Gln1323Ter) rs1489351299
NM_000092.5(COL4A4):c.446G>T (p.Gly149Val) rs374815903
NM_000092.5(COL4A4):c.4470del (p.Tyr1491fs) rs1963392922
NM_000092.5(COL4A4):c.4599T>G (p.Tyr1533Ter) rs369922627
NM_000092.5(COL4A4):c.4684del (p.Tyr1562fs) rs1962591629
NM_000092.5(COL4A4):c.4953G>A (p.Trp1651Ter) rs1408907127
NM_000092.5(COL4A4):c.555dup (p.Gln186fs) rs2061393958
NM_000092.5(COL4A4):c.71+1G>A rs1559742015
NM_000092.5(COL4A4):c.755G>A (p.Gly252Asp) rs760795817
NM_000092.5(COL4A4):c.941G>A (p.Gly314Asp) rs1005389790

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