List of variants studied for X-linked Alport syndrome by Mendelics

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Total variants: 16

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HGVS	dbSNP	gnomAD frequency
NM_000092.5(COL4A4):c.3979G>A (p.Val1327Met)	rs2229813	0.46716
NM_033380.3(COL4A5):c.2858G>T (p.Gly953Val)	rs78972735	0.00119
NM_033380.3(COL4A5):c.2215C>G (p.Pro739Ala)	rs104886164	0.00034
NM_033380.3(COL4A5):c.1871G>A (p.Gly624Asp)	rs104886142	0.00005
NM_033380.3(COL4A5):c.2107A>G (p.Ile703Val)	rs104886155	0.00002
NM_033380.3(COL4A5):c.1138G>T (p.Gly380Cys)	rs2066342908
NM_033380.3(COL4A5):c.1588-10C>G	rs1603290097
NM_033380.3(COL4A5):c.1817G>A (p.Gly606Glu)	rs2147813326
NM_033380.3(COL4A5):c.2005G>T (p.Gly669Cys)	rs281874684
NM_033380.3(COL4A5):c.2395+2T>A	rs1603293639
NM_033380.3(COL4A5):c.2722G>A (p.Gly908Arg)	rs281874703
NM_033380.3(COL4A5):c.2999G>T (p.Gly1000Val)	rs281874709
NM_033380.3(COL4A5):c.321+2T>G	rs1603279005
NM_033380.3(COL4A5):c.412G>T (p.Gly138Cys)	rs767619131
NM_033380.3(COL4A5):c.4599C>T (p.Cys1533=)	rs1603326524
NM_033380.3(COL4A5):c.4822-1G>T	rs1603328372

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