ClinVar Miner

List of variants studied for Waardenburg syndrome type 2A by Deafness Molecular Diagnostic Center, Chinese PLA General Hospital

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Total variants: 4
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HGVS dbSNP gnomAD frequency
NM_001354604.2(MITF):c.1198C>T (p.Arg400Ter) rs1464157509
NM_001354604.2(MITF):c.928A>G (p.Arg310Gly) rs2066264802
NM_001354604.2(MITF):c.955+1G>C rs2107519634
NM_001354604.2(MITF):c.967del (p.Arg323fs) rs2066400236

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