List of variants reported as pathogenic for autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome

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Total variants: 15

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HGVS	dbSNP	gnomAD frequency
NM_001845.6(COL4A1):c.1492G>C (p.Gly498Arg)	rs267606744
NM_001845.6(COL4A1):c.1493G>T (p.Gly498Val)	rs113994104
NM_001845.6(COL4A1):c.1528G>A (p.Gly510Arg)	rs267606743
NM_001845.6(COL4A1):c.1555G>A (p.Gly519Arg)	rs113994105
NM_001845.6(COL4A1):c.1573_1574delinsTT (p.Gly525Leu)	rs281865426
NM_001845.6(COL4A1):c.1583G>A (p.Gly528Glu)	rs113994106
NM_001845.6(COL4A1):c.1937del (p.Gly646fs)	rs1878257364
NM_001845.6(COL4A1):c.1947_1959del (p.Ala650fs)
NM_001845.6(COL4A1):c.2228G>T (p.Gly743Val)	rs1057523354
NM_001845.6(COL4A1):c.2263G>A (p.Gly755Arg)	rs672601346
NM_001845.6(COL4A1):c.2317G>A (p.Gly773Arg)	rs672601347
NM_001845.6(COL4A1):c.3112G>A (p.Gly1038Ser)	rs1877832657
NM_001845.6(COL4A1):c.4020dup (p.Gly1341fs)
NM_001845.6(COL4A1):c.921dup (p.Gly308fs)	rs1594579579
NM_012330.4(KAT6B):c.5040C>G (p.Tyr1680Ter)	rs369027010

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