ClinVar Miner

List of variants studied for Alport syndrome, autosomal recessive by Athena Diagnostics Inc

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Total variants: 4
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HGVS dbSNP
NM_000092.5(COL4A4):c.1781A>G (p.Glu594Gly) rs35998949
NM_000092.5(COL4A4):c.2899A>G (p.Ile967Val) rs80243096
NM_000092.5(COL4A4):c.4041A>G (p.Leu1347=) rs16823077
NM_000092.5(COL4A4):c.948T>C (p.Tyr316=) rs34509421

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