ClinVar Miner

List of variants reported as likely pathogenic for Benign familial hematuria

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Total variants: 9
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HGVS dbSNP
NM_000091.4(COL4A3):c.3257G>A (p.Gly1086Glu) rs1574813350
NM_000091.5(COL4A3):c.647G>T (p.Gly216Val)
NM_000092.4(COL4A4):c.1108G>A (p.Gly370Arg) rs1559617617
NM_000092.4(COL4A4):c.2690G>A (p.Gly897Glu) rs121912860
NM_000092.4(COL4A4):c.719G>A (p.Gly240Glu) rs1559643753
NM_000092.5(COL4A4):c.193G>A (p.Gly65Ser)
NM_000092.5(COL4A4):c.1970G>A (p.Gly657Asp)
NM_000092.5(COL4A4):c.2654G>A (p.Gly885Asp)
NM_000092.5(COL4A4):c.718G>C (p.Gly240Arg)

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