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

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Minimum conflict level: Report conflict between different conditions
		ClinVar version:

Total variants: 15

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HGVS	dbSNP	gnomAD frequency
NM_033380.3(COL4A5):c.5048G>A (p.Arg1683Gln)	rs104886308	0.00002
COL4A5, 10-15-KB INS, 40-KB DEL
Multiple alleles
NG_011977.2:g.(239831_242576)_(252772_257824)del
NG_011977.2:g.(246966_251107)_?del
NG_011977.2:g.?_(146097_162513)del
NM_033380.2(COL4A5):c.[866G>T;4282C>T]
NM_033380.3(COL4A5):c.1561G>T (p.Gly521Cys)	rs104886121
NM_033380.3(COL4A5):c.161G>A (p.Gly54Asp)	rs104886043
NM_033380.3(COL4A5):c.3428G>A (p.Gly1143Asp)	rs104886229
NM_033380.3(COL4A5):c.4631G>C (p.Trp1544Ser)	rs104886293
NM_033380.3(COL4A5):c.4709G>C (p.Cys1570Ser)	rs104886287
NM_033380.3(COL4A5):c.4964T>G (p.Leu1655Arg)	rs104886303
NM_033380.3(COL4A5):c.973G>A (p.Gly325Arg)	rs104886088
NM_033380.3(COL4A5):c.974G>A (p.Gly325Glu)	rs104886091

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