List of variants in gene COL4A4 reported as likely pathogenic for Alport syndrome

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 13

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HGVS	dbSNP	gnomAD frequency
NM_000092.5(COL4A4):c.4715C>T (p.Pro1572Leu)	rs121912863	0.00019
NM_000092.5(COL4A4):c.2320G>C (p.Gly774Arg)	rs569681869	0.00004
NM_000092.5(COL4A4):c.2752G>A (p.Gly918Arg)	rs372606845	0.00002
NM_000092.5(COL4A4):c.489+1G>A	rs1040287646	0.00001
NM_000092.5(COL4A4):c.559-2A>G	rs766243664	0.00001
NM_000092.5(COL4A4):c.975+1G>A	rs1553683192	0.00001
NM_000092.5(COL4A4):c.1030-2A>C	rs1553681714
NM_000092.5(COL4A4):c.1181G>T (p.Gly394Val)
NM_000092.5(COL4A4):c.1240G>T (p.Gly414Cys)	rs373150214
NM_000092.5(COL4A4):c.1369+1G>A	rs1553676230
NM_000092.5(COL4A4):c.1578del (p.Gly527fs)	rs2059733367
NM_000092.5(COL4A4):c.3488G>T (p.Gly1163Val)	rs1559480099
NM_000092.5(COL4A4):c.81_86del (p.27IL[1])	rs771943519

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