List of variants in gene combination COL4A3, MFF-DT reported by Mendelics

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: 7

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HGVS	dbSNP	gnomAD frequency
NM_000091.5(COL4A3):c.422T>C (p.Leu141Pro)	rs10178458	0.77314
NM_000091.5(COL4A3):c.4421T>C (p.Leu1474Pro)	rs200302125	0.00257
NM_000091.5(COL4A3):c.3829G>A (p.Gly1277Ser)	rs190598500	0.00035
NM_000091.5(COL4A3):c.4510T>C (p.Phe1504Leu)	rs201671013	0.00024
NM_000091.5(COL4A3):c.3337+1G>A	rs1430568143
NM_000091.5(COL4A3):c.365T>C (p.Val122Ala)	rs766935732
NM_000091.5(COL4A3):c.716G>A (p.Gly239Glu)	rs1574699782

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