List of variants studied for autosomal recessive Alport syndrome by Athena Diagnostics

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Total variants: 12

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HGVS	dbSNP	gnomAD frequency
NM_000091.5(COL4A3):c.1195C>T (p.Leu399=)	rs10205042	0.72668
NM_000091.5(COL4A3):c.976G>T (p.Asp326Tyr)	rs55703767	0.15364
NM_000091.5(COL4A3):c.1452G>A (p.Gly484=)	rs34019152	0.07474
NM_000091.5(COL4A3):c.1223G>A (p.Arg408His)	rs34505188	0.06909
NM_000091.5(COL4A3):c.805G>A (p.Glu269Lys)	rs80109666	0.02845
NM_000092.5(COL4A4):c.948T>C (p.Tyr316=)	rs34509421	0.02777
NM_000091.5(COL4A3):c.4041C>A (p.Asp1347Glu)	rs73996414	0.02579
NM_000092.5(COL4A4):c.4041A>G (p.Leu1347=)	rs16823077	0.02492
NM_000092.5(COL4A4):c.1781A>G (p.Glu594Gly)	rs35998949	0.02275
NM_000091.5(COL4A3):c.399G>A (p.Gly133=)	rs75683214	0.02133
NM_000092.5(COL4A4):c.2899A>G (p.Ile967Val)	rs80243096	0.01747
NM_000091.5(COL4A3):c.127G>C (p.Gly43Arg)	rs13424243

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