List of variants in gene COL4A4 reported by Institute Of Human Genetics Munich, Klinikum Rechts Der Isar, Tu München

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: 16

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HGVS	dbSNP	gnomAD frequency
NM_000092.5(COL4A4):c.3044G>A (p.Gly1015Glu)	rs764323652	0.00008
NM_000092.5(COL4A4):c.1921C>T (p.Arg641Ter)	rs778345125	0.00001
NM_000092.5(COL4A4):c.2690G>A (p.Gly897Glu)	rs121912860	0.00001
NM_000092.5(COL4A4):c.4808T>C (p.Met1603Thr)	rs377058706	0.00001
GRCh37/hg19 2q36.3(chr2:227942610-227945265)
NM_000092.4(COL4A4):c.1321_1369+3del	rs1553676221
NM_000092.5(COL4A4):c.10_11del (p.Leu4fs)
NM_000092.5(COL4A4):c.1846G>C (p.Gly616Arg)
NM_000092.5(COL4A4):c.193-2A>C	rs2125038490
NM_000092.5(COL4A4):c.2383+1G>A
NM_000092.5(COL4A4):c.2734G>C (p.Gly912Arg)	rs1553640846
NM_000092.5(COL4A4):c.3699_3706+1del
NM_000092.5(COL4A4):c.4809+1G>C
NM_000092.5(COL4A4):c.594+1G>A	rs1553690565
NM_000092.5(COL4A4):c.71+1del	rs2125387640
NM_000092.5(COL4A4):c.755G>A (p.Gly252Asp)	rs760795817

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