ClinVar Miner

List of variants in gene MEGF8 reported as pathogenic for Carpenter syndrome

Included ClinVar conditions (3):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 6
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HGVS dbSNP
MEGF8, GLY199ARG
NC_000019.9:g.(?_42874853)_(42874983_?)del
NM_001271938.2(MEGF8):c.1788+1G>C rs1206116606
NM_001271938.2(MEGF8):c.4697G>A (p.Arg1566His) rs397515427
NM_001271938.2(MEGF8):c.7300A>G (p.Ser2434Gly) rs397515428
NM_001410.3(MEGF8):c.1342C>T (p.Arg448Ter) rs397514621

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