List of variants in gene combination COL4A3, MFF-DT reported as uncertain significance by Athena Diagnostics Inc

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: 10

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HGVS	dbSNP	gnomAD frequency
NM_000091.5(COL4A3):c.4421T>C (p.Leu1474Pro)	rs200302125	0.00257
NM_000091.5(COL4A3):c.1483C>T (p.His495Tyr)	rs200510532	0.00110
NM_000091.5(COL4A3):c.4523A>G (p.Asn1508Ser)	rs200512461	0.00022
NM_000091.5(COL4A3):c.4649T>G (p.Val1550Gly)	rs200655479	0.00006
NM_000091.5(COL4A3):c.756T>A (p.Asp252Glu)	rs1412919917	0.00003
NM_000091.5(COL4A3):c.1127C>T (p.Pro376Leu)	rs760049264
NM_000091.5(COL4A3):c.1309C>T (p.Pro437Ser)	rs763403545
NM_000091.5(COL4A3):c.2223G>A (p.Lys741=)	rs1574774667
NM_000091.5(COL4A3):c.2381C>T (p.Pro794Leu)	rs1559895213
NM_000091.5(COL4A3):c.5010_*14del (p.His1670_Ter1671delinsXaa)	rs765655100

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