List of variants in gene COL4A4 studied for Focal segmental glomerulosclerosis

Minimum submission review status:		Collection method:
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Gene type: Distinguish antisense genes from sense genes
		ClinVar version:

Total variants: 12

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HGVS	dbSNP	gnomAD frequency
NM_000092.5(COL4A4):c.948T>C (p.Tyr316=)	rs34509421	0.02777
NM_000092.5(COL4A4):c.2899A>G (p.Ile967Val)	rs80243096	0.01747
NM_000092.5(COL4A4):c.3486A>G (p.Pro1162=)	rs2229815	0.01659
NM_000092.5(COL4A4):c.2008G>A (p.Val670Ile)	rs34236495	0.01622
NM_000092.5(COL4A4):c.1323T>C (p.Pro441=)	rs35830639	0.01576
NM_000092.5(COL4A4):c.4656G>A (p.Met1552Ile)	rs77104306	0.01346
NM_000092.5(COL4A4):c.1821G>A (p.Ala607=)	rs114684841	0.01262
NM_000092.5(COL4A4):c.3233C>T (p.Ala1078Val)	rs79143859	0.01259
NM_000092.5(COL4A4):c.2717-5A>T	rs1800519	0.01182
NM_000092.5(COL4A4):c.2367A>T (p.Gly789=)	rs56247709
NM_000092.5(COL4A4):c.3704del (p.Pro1235fs)	rs754706338
NM_000092.5(COL4A4):c.412dup (p.Met138fs)	rs2125000621

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