List of variants in gene COL4A1 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: 15

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HGVS	dbSNP	gnomAD frequency
NM_001845.6(COL4A1):c.2669C>T (p.Pro890Leu)	rs139859950	0.00035
NM_001845.6(COL4A1):c.2093A>G (p.Lys698Arg)	rs375318302	0.00021
NM_001845.6(COL4A1):c.3170T>C (p.Ile1057Thr)	rs569940067	0.00015
NM_001845.6(COL4A1):c.2447C>T (p.Pro816Leu)	rs781249721	0.00008
NM_001845.6(COL4A1):c.1427G>A (p.Arg476Gln)	rs376673751	0.00006
NM_001845.6(COL4A1):c.1402C>T (p.Leu468Phe)	rs757163211	0.00004
NM_001845.6(COL4A1):c.1055C>T (p.Pro352Leu)	rs200786329	0.00003
NM_001845.6(COL4A1):c.1056G>A (p.Pro352=)	rs531373470	0.00002
NM_001845.6(COL4A1):c.1091C>T (p.Pro364Leu)	rs755483519	0.00001
NM_001845.6(COL4A1):c.3581C>T (p.Pro1194Leu)	rs372606485	0.00001
NM_001845.6(COL4A1):c.553-10T>C	rs370673476	0.00001
NM_001845.6(COL4A1):c.1838C>G (p.Pro613Arg)	rs146091004
NM_001845.6(COL4A1):c.347C>T (p.Pro116Leu)	rs538816765
NM_001845.6(COL4A1):c.4151-10T>C
NM_001845.6(COL4A1):c.4757A>T (p.His1586Leu)	rs1566332829

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