List of variants reported as pathogenic for Alport syndrome by Baylor Genetics

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Total variants: 8

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HGVS	dbSNP	gnomAD frequency
NM_000092.5(COL4A4):c.2906C>G (p.Ser969Ter)	rs35138315	0.00011
NM_033380.3(COL4A5):c.1871G>A (p.Gly624Asp)	rs104886142	0.00005
GRCh37/hg19 Xq22.3(chrX:107802035-107802303)
NM_000091.5(COL4A3):c.663_664del (p.Arg221fs)	rs1469479748
NM_000092.5(COL4A4):c.3214+1G>T	rs747167770
NM_033380.3(COL4A5):c.3721G>T (p.Gly1241Cys)	rs104886255
NM_033380.3(COL4A5):c.4016-1G>A	rs797045035
NM_033380.3(COL4A5):c.796C>T (p.Arg266Ter)	rs104886071

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