List of variants in gene COL4A4 reported by Baylor Genetics

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: 12

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HGVS	dbSNP	gnomAD frequency
NM_000092.5(COL4A4):c.865C>T (p.Arg289Cys)	rs371904688	0.00021
NM_000092.5(COL4A4):c.4924C>T (p.His1642Tyr)	rs200450557	0.00016
NM_000092.5(COL4A4):c.2906C>G (p.Ser969Ter)	rs35138315	0.00011
NM_000092.5(COL4A4):c.4678C>T (p.Arg1560Cys)	rs200973262	0.00008
NM_000092.5(COL4A4):c.2985C>T (p.Pro995=)	rs79261248	0.00007
NM_000092.5(COL4A4):c.2242G>A (p.Gly748Ser)	rs762139460	0.00002
NM_000092.5(COL4A4):c.3581T>C (p.Leu1194Ser)	rs554736387	0.00001
GRCh37/hg19 2q36.3(chr2:227939002-227943108)
NM_000092.5(COL4A4):c.1030-14A>G	rs2060400553
NM_000092.5(COL4A4):c.2155G>C (p.Gly719Arg)
NM_000092.5(COL4A4):c.3214+1G>T	rs747167770
NM_000092.5(COL4A4):c.4660C>T (p.Leu1554Phe)	rs1962599188

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