ClinVar Miner

Variants in gene COL4A1 with conflicting interpretations "likely pathogenic" and "pathogenic"

Submission 1 (likely pathogenic) minimum review status: Submission 1 (likely pathogenic) method:
Submission 2 (pathogenic) minimum review status: Submission 2 (pathogenic) method:
Gene type:
ClinVar version:
Total variants with conflicting interpretations: 11
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HGVS dbSNP gnomAD frequency
NM_001845.6(COL4A1):c.3187C>T (p.Arg1063Ter) rs1877827904 0.00001
NM_001845.6(COL4A1):c.1801G>A (p.Gly601Ser) rs1064794777
NM_001845.6(COL4A1):c.2008G>A (p.Gly670Arg) rs1878248687
NM_001845.6(COL4A1):c.2086G>A (p.Gly696Ser) rs587780588
NM_001845.6(COL4A1):c.2317G>A (p.Gly773Arg) rs672601347
NM_001845.6(COL4A1):c.2494G>A (p.Gly832Arg) rs797044867
NM_001845.6(COL4A1):c.3307G>A (p.Gly1103Arg) rs1877796698
NM_001845.6(COL4A1):c.3592G>A (p.Gly1198Arg) rs2139156247
NM_001845.6(COL4A1):c.3715G>A (p.Gly1239Arg) rs1085307709
NM_001845.6(COL4A1):c.3760G>A (p.Gly1254Arg) rs1085307614
NM_001845.6(COL4A1):c.4546C>T (p.Arg1516Ter) rs1594535661

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