List of variants in gene combination COL4A3, MFF-DT reported by ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories

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_000091.5(COL4A3):c.485A>G (p.Glu162Gly)	rs6436669	0.77323
NM_000091.5(COL4A3):c.1223G>A (p.Arg408His)	rs34505188	0.06909
NM_000091.5(COL4A3):c.3807C>A (p.Asp1269Glu)	rs57611801	0.06070
NM_000091.5(COL4A3):c.805G>A (p.Glu269Lys)	rs80109666	0.02845
NM_000091.5(COL4A3):c.2501A>G (p.Lys834Arg)	rs56226424	0.01064
NM_000091.5(COL4A3):c.4893C>T (p.Phe1631=)	rs183218622	0.00344
NM_000091.5(COL4A3):c.4665G>A (p.Ala1555=)	rs200858199	0.00210
NM_000091.5(COL4A3):c.3566-9T>C	rs147886850	0.00184
NM_000091.5(COL4A3):c.2886C>T (p.Phe962=)	rs77846212	0.00123
NM_000091.5(COL4A3):c.3829G>A (p.Gly1277Ser)	rs190598500	0.00035
NM_000091.5(COL4A3):c.2083G>A (p.Gly695Arg)	rs200287952	0.00016
NM_000091.5(COL4A3):c.685C>T (p.Arg229Trp)	rs759074046	0.00011
NM_000091.5(COL4A3):c.361G>A (p.Gly121Ser)	rs778886174	0.00001
NM_000091.5(COL4A3):c.443G>T (p.Gly148Val)	rs775373641	0.00001
NM_000091.5(COL4A3):c.127G>C (p.Gly43Arg)	rs13424243
NM_000091.5(COL4A3):c.688G>A (p.Gly230Ser)	rs2125932297

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