ClinVar Miner

List of variants studied for TMEM199-CDG by OMIM

Included ClinVar conditions (1):
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Total variants: 4
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HGVS dbSNP
NM_152464.2(TMEM199):c.20C>A (p.Ala7Glu) rs369488804
NM_152464.2(TMEM199):c.376-1G>A rs869025587
NM_152464.2(TMEM199):c.40G>C (p.Ala14Pro) rs869025586
NM_152464.2(TMEM199):c.92G>C (p.Arg31Pro) rs782531869

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