List of variants in gene COL4A1 reported by Institute of Human Genetics, University of Leipzig Medical Center

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
		ClinVar version:

Total variants: 14

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HGVS	dbSNP	gnomAD frequency
NM_001845.6(COL4A1):c.7C>A (p.Pro3Thr)	rs751749989	0.00048
NM_001845.6(COL4A1):c.1495G>A (p.Asp499Asn)	rs773778552	0.00002
NM_001845.6(COL4A1):c.144+1G>A	rs2139245731
NM_001845.6(COL4A1):c.1573G>A (p.Gly525Arg)
NM_001845.6(COL4A1):c.1771G>A (p.Val591Ile)	rs1878413648
NM_001845.6(COL4A1):c.2078G>A (p.Gly693Glu)	rs1555303720
NM_001845.6(COL4A1):c.2153_2154dup (p.Asn719fs)
NM_001845.6(COL4A1):c.2627-1G>A	rs1064796811
NM_001845.6(COL4A1):c.2959G>A (p.Gly987Arg)	rs1566351456
NM_001845.6(COL4A1):c.3397G>A (p.Gly1133Arg)
NM_001845.6(COL4A1):c.3556+4A>G
NM_001845.6(COL4A1):c.3698G>A (p.Gly1233Glu)	rs1348341976
NM_001845.6(COL4A1):c.4981C>T (p.Arg1661Cys)	rs1555300086
NM_001845.6:c.(4755+1_4756-1)_(4928+1_4929-1)del

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