ClinVar Miner

List of variants reported as likely pathogenic for Benign familial hematuria

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Total variants: 41
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HGVS dbSNP gnomAD frequency
NM_000091.5(COL4A3):c.2083G>A (p.Gly695Arg) rs200287952 0.00016
NM_000092.5(COL4A4):c.2906C>G (p.Ser969Ter) rs35138315 0.00011
NM_000092.5(COL4A4):c.3044G>A (p.Gly1015Glu) rs764323652 0.00008
NM_000092.5(COL4A4):c.2986G>A (p.Gly996Arg) rs370474706 0.00004
NM_000091.5(COL4A3):c.898G>A (p.Gly300Arg) rs772708743 0.00002
NM_000091.5(COL4A3):c.1669G>A (p.Gly557Arg) rs1457269547 0.00001
NM_000092.5(COL4A4):c.193G>A (p.Gly65Ser) rs776036994 0.00001
NM_000092.5(COL4A4):c.2312G>A (p.Gly771Glu) rs781660254 0.00001
NM_000092.5(COL4A4):c.2690G>A (p.Gly897Glu) rs121912860 0.00001
NM_000092.5(COL4A4):c.735G>A (p.Pro245=) rs923865420 0.00001
NM_000092.5(COL4A4):c.755G>T (p.Gly252Val) rs760795817 0.00001
NM_000091.5(COL4A3):c.2498G>A (p.Gly833Asp) rs779489401
NM_000091.5(COL4A3):c.3044G>A (p.Gly1015Glu) rs121912826
NM_000091.5(COL4A3):c.3257G>A (p.Gly1086Glu) rs1574813350
NM_000091.5(COL4A3):c.647G>T (p.Gly216Val) rs2069899081
NM_000092.5(COL4A4):c.10_11del (p.Leu4fs)
NM_000092.5(COL4A4):c.1108G>A (p.Gly370Arg) rs1559617617
NM_000092.5(COL4A4):c.1405G>A (p.Gly469Arg)
NM_000092.5(COL4A4):c.1751G>A (p.Gly584Glu) rs2150506036
NM_000092.5(COL4A4):c.1807_1816del (p.Asp603fs) rs2150477599
NM_000092.5(COL4A4):c.1846G>C (p.Gly616Arg)
NM_000092.5(COL4A4):c.193-2A>C rs2125038490
NM_000092.5(COL4A4):c.1970G>A (p.Gly657Asp) rs755233004
NM_000092.5(COL4A4):c.1987+1G>A rs2150474860
NM_000092.5(COL4A4):c.2383+1G>A
NM_000092.5(COL4A4):c.2383+1G>T
NM_000092.5(COL4A4):c.2446_2453dup (p.Val820fs) rs2150250774
NM_000092.5(COL4A4):c.2654G>A (p.Gly885Asp) rs1425028482
NM_000092.5(COL4A4):c.2734G>C (p.Gly912Arg) rs1553640846
NM_000092.5(COL4A4):c.3647G>A (p.Gly1216Glu) rs2149981074
NM_000092.5(COL4A4):c.4082-1G>T rs1559438651
NM_000092.5(COL4A4):c.4809+1G>C
NM_000092.5(COL4A4):c.489dup (p.Gly164fs) rs2124998835
NM_000092.5(COL4A4):c.536T>G (p.Leu179Ter) rs2124925120
NM_000092.5(COL4A4):c.657+2dup rs2150877933
NM_000092.5(COL4A4):c.694-1G>C
NM_000092.5(COL4A4):c.71+1del rs2125387640
NM_000092.5(COL4A4):c.718G>C (p.Gly240Arg) rs2060994526
NM_000092.5(COL4A4):c.719G>A (p.Gly240Glu) rs1559643753
NM_000092.5(COL4A4):c.755G>A (p.Gly252Asp) rs760795817
NM_000092.5(COL4A4):c.81_86del (p.27IL[1]) rs771943519

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