List of variants in gene combination COL4A3, MFF-DT reported as likely benign 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: 34

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HGVS	dbSNP	gnomAD frequency
NM_000091.5(COL4A3):c.1352A>G (p.His451Arg)	rs11677877	0.08050
NM_000091.5(COL4A3):c.2715C>T (p.Pro905=)	rs75519005	0.01995
NM_000091.5(COL4A3):c.*1360T>A	rs116377856	0.00953
NM_000091.5(COL4A3):c.*2145A>C	rs115394347	0.00614
NM_000091.5(COL4A3):c.*2182C>T	rs114535536	0.00613
NM_000091.5(COL4A3):c.*811A>C	rs116568659	0.00504
NM_000091.5(COL4A3):c.4707A>T (p.Pro1569=)	rs113401495	0.00364
NM_000091.5(COL4A3):c.3566-10T>C	rs114719458	0.00331
NM_000091.5(COL4A3):c.3031C>T (p.Arg1011Cys)	rs73996408	0.00233
NM_000091.5(COL4A3):c.4665G>A (p.Ala1555=)	rs200858199	0.00210
NM_000091.5(COL4A3):c.4445C>T (p.Ala1482Val)	rs199755408	0.00159
NM_000091.5(COL4A3):c.2886C>T (p.Phe962=)	rs77846212	0.00123
NM_000091.5(COL4A3):c.3939G>A (p.Gly1313=)	rs141552752	0.00121
NM_000091.5(COL4A3):c.222G>T (p.Pro74=)	rs187950806	0.00096
NM_000091.5(COL4A3):c.4494C>G (p.Thr1498=)	rs200454769	0.00058
NM_000091.5(COL4A3):c.*2228T>C	rs367785196	0.00034
NM_000091.5(COL4A3):c.1353C>T (p.His451=)	rs189364374	0.00025
NM_000091.5(COL4A3):c.1362A>T (p.Pro454=)	rs377373374	0.00016
NM_000091.5(COL4A3):c.3751+7G>A	rs750554079	0.00014
NM_000091.5(COL4A3):c.1917C>T (p.Pro639=)	rs369320502	0.00004
NM_000091.5(COL4A3):c.1437C>T (p.Cys479=)	rs748691382	0.00003
NM_000091.5(COL4A3):c.3588C>G (p.Ala1196=)	rs767337248	0.00003
NM_000091.5(COL4A3):c.159T>C (p.Phe53=)	rs1217941846	0.00001
NM_000091.5(COL4A3):c.1674C>T (p.Leu558=)	rs762241502	0.00001
NM_000091.5(COL4A3):c.1944C>T (p.Leu648=)	rs199554662	0.00001
NM_000091.5(COL4A3):c.315T>C (p.Pro105=)	rs371460434	0.00001
NM_000091.5(COL4A3):c.3210+8G>A	rs545181831	0.00001
NM_000091.5(COL4A3):c.4329G>A (p.Thr1443=)	rs778174094	0.00001
NM_000091.5(COL4A3):c.*2834ATA[1]	rs137947510
NM_000091.5(COL4A3):c.1368T>C (p.Tyr456=)	rs766591906
NM_000091.5(COL4A3):c.1887G>A (p.Thr629=)	rs201109911
NM_000091.5(COL4A3):c.2184G>A (p.Glu728=)	rs779837475
NM_000091.5(COL4A3):c.222G>A (p.Pro74=)	rs187950806
NM_000091.5(COL4A3):c.567T>A (p.Gly189=)	rs2125924539

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