ClinVar Miner

Variants in gene COL4A5 with conflicting interpretations "uncertain significance" and "likely pathogenic"

Submission 1 (uncertain significance) minimum review status: Submission 1 (uncertain significance) method:
Submission 2 (likely pathogenic) minimum review status: Submission 2 (likely pathogenic) method:
Gene type:
ClinVar version:
Total variants with conflicting interpretations: 11
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HGVS dbSNP gnomAD frequency
NM_033380.3(COL4A5):c.1871G>A (p.Gly624Asp) rs104886142 0.00005
NM_033380.3(COL4A5):c.3899G>C (p.Gly1300Ala) rs1252928330 0.00001
NM_033380.3(COL4A5):c.4891C>T (p.Arg1631Cys) rs865842167 0.00001
NM_033380.3(COL4A5):c.1033-6A>G rs869025330
NM_033380.3(COL4A5):c.1588-10C>G rs1603290097
NM_033380.3(COL4A5):c.2767+4A>G
NM_033380.3(COL4A5):c.3116G>A (p.Gly1039Asp) rs1556421658
NM_033380.3(COL4A5):c.4207G>A (p.Gly1403Ser) rs2147982351
NM_033380.3(COL4A5):c.4283G>A (p.Arg1428His) rs2068539626
NM_033380.3(COL4A5):c.476G>A (p.Gly159Asp) rs2147759208
NM_033380.3(COL4A5):c.687+5G>A rs1556405930

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