ClinVar Miner

List of variants reported as benign for Renal coloboma syndrome

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Total variants: 5
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HGVS dbSNP gnomAD frequency
NM_001304569.2(PAX2):c.25+31A>G rs4919486 0.79471
NM_000278.5(PAX2):c.909A>C (p.Pro303=) rs1800898 0.40586
NM_000278.5(PAX2):c.43+43C>A rs4405241 0.37380
NM_000278.5(PAX2):c.1021+167C>T
NM_000278.5(PAX2):c.43+10G>C rs4472867

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