List of variants reported as uncertain significance for Alport syndrome 1, X-linked recessive by Research and Development, ARUP Laboratories

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

Total variants: 13

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HGVS	dbSNP
NM_033380.3(COL4A5):c.48_49insAT	rs1556464307
NM_033380.3(COL4A5):c.1499G>T (p.Gly500Val)	rs1569493670
NM_033380.3(COL4A5):c.2145A>G (p.Lys715=)	rs1569495067
NM_033380.3(COL4A5):c.2215C>G (p.Pro739Ala)	rs104886164
NM_033380.3(COL4A5):c.2245-14T>A	rs1569495752
NM_033380.3(COL4A5):c.262C>T (p.Pro88Ser)	rs773883586
NM_033380.3(COL4A5):c.2692A>G (p.Met898Val)	rs104886192
NM_033380.3(COL4A5):c.4072C>A (p.Leu1358Ile)	rs143020337
NM_033380.3(COL4A5):c.4246C>T (p.Arg1416Cys)	rs104886270
NM_033380.3(COL4A5):c.4550G>A (p.Arg1517His)	rs104886285
NM_033380.3(COL4A5):c.4567C>A (p.Pro1523Thr)	rs201220208
NM_033380.3(COL4A5):c.466-17T>G	rs104886415
NM_033380.3(COL4A5):c.4994+3A>G	rs1569509373

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