List of variants studied for Autosomal dominant Alport syndrome by Centogene AG - the Rare Disease Company

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		ClinVar version:

Total variants: 7

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HGVS	dbSNP	gnomAD frequency
NM_000091.5(COL4A3):c.4717G>A (p.Gly1573Ser)	rs761262391	0.00003
NM_000091.5(COL4A3):c.1021C>T (p.Arg341Cys)	rs778166354	0.00001
NM_000091.5(COL4A3):c.520G>A (p.Gly174Arg)	rs1014839148	0.00001
NM_000091.5(COL4A3):c.2188G>C (p.Gly730Arg)	rs2106147444
NM_000091.5(COL4A3):c.2711G>T (p.Gly904Val)	rs1174417447
NM_000091.5(COL4A3):c.416G>A (p.Gly139Glu)	rs2125911862
NM_000091.5(COL4A3):c.593G>T (p.Gly198Val)	rs2125924674

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