List of variants reported as uncertain significance for X-linked Alport syndrome by Natera, Inc.

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Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 14

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HGVS	dbSNP	gnomAD frequency
NM_033380.3(COL4A5):c.4087+6A>T	rs748429212	0.00010
NM_033380.3(COL4A5):c.3955C>T (p.Arg1319Trp)	rs138903372	0.00004
NM_033380.3(COL4A5):c.1057A>G (p.Ile353Val)	rs769214642	0.00002
NM_033380.3(COL4A5):c.142-6T>C	rs1047699266	0.00002
NM_033380.3(COL4A5):c.677A>C (p.Lys226Thr)	rs991159149	0.00002
NM_033380.3(COL4A5):c.2290C>T (p.Leu764Phe)	rs2066735216	0.00001
NM_033380.3(COL4A5):c.3878C>T (p.Pro1293Leu)	rs1397121500	0.00001
NM_033380.3(COL4A5):c.4726C>G (p.Pro1576Ala)	rs747041833	0.00001
NM_033380.3(COL4A5):c.-25_-8dup	rs752443408
NM_033380.3(COL4A5):c.1047T>C (p.Pro349=)	rs1166405194
NM_033380.3(COL4A5):c.1948+4A>C	rs1311897513
NM_033380.3(COL4A5):c.40T>G (p.Leu14Val)	rs760570519
NM_033380.3(COL4A5):c.4652T>C (p.Met1551Thr)	rs1057518146
NM_033380.3(COL4A5):c.4972G>C (p.Val1658Leu)	rs2068718130

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