ClinVar Miner

List of variants reported as likely pathogenic for MEGF8-related Carpenter syndrome by Fulgent Genetics, Fulgent Genetics

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Total variants: 3

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HGVS	dbSNP	gnomAD frequency
NM_001271938.2(MEGF8):c.2971C>T (p.Arg991Ter)	rs779375840	0.00002
NM_001271938.2(MEGF8):c.3761+1G>C
NM_001271938.2(MEGF8):c.4830+1G>A

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