ClinVar Miner

List of variants reported for Van Maldergem syndrome 2 by Undiagnosed Diseases Network, NIH

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Total variants: 2
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HGVS dbSNP gnomAD frequency
NM_001291303.3(FAT4):c.8021A>T (p.Asp2674Val) rs138655269 0.00121
NM_001291303.3(FAT4):c.10560G>A (p.Met3520Ile) rs144506470 0.00047

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