List of variants in gene combination COL4A3, MFF-DT reported as likely pathogenic for Alport syndrome

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 11

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HGVS	dbSNP	gnomAD frequency
NM_000091.5(COL4A3):c.3829G>A (p.Gly1277Ser)	rs190598500	0.00035
NM_000091.5(COL4A3):c.898G>A (p.Gly300Arg)	rs772708743	0.00002
NM_000091.5(COL4A3):c.1468G>C (p.Gly490Arg)	rs1256505387	0.00001
NM_000091.5(COL4A3):c.2747-1G>C	rs1196996393	0.00001
NM_000091.5(COL4A3):c.3472G>C (p.Gly1158Arg)	rs914878176	0.00001
NM_000091.5(COL4A3):c.3499G>A (p.Gly1167Arg)	rs267606745	0.00001
NM_000091.5(COL4A3):c.3751+1G>A	rs781566652	0.00001
NM_000091.5(COL4A3):c.1114+2T>C	rs956551930
NM_000091.5(COL4A3):c.1381G>C (p.Gly461Arg)	rs1135401954
NM_000091.5(COL4A3):c.3026del (p.Gly1009fs)	rs755109848
NM_000091.5(COL4A3):c.4972dup (p.Ile1658fs)	rs2073752422

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