ClinVar Miner

List of variants reported as pathogenic for Carpenter syndrome

Included ClinVar conditions (3):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 12
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HGVS dbSNP
MEGF8, GLY199ARG
NC_000019.9:g.(?_42874853)_(42874983_?)del
NM_001271938.2(MEGF8):c.1342C>T (p.Arg448Ter) rs397514621
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_016277.5(RAB23):c.408dup (p.Glu137Ter)
NM_016277.5(RAB23):c.434T>A (p.Leu145Ter) rs121908171
NM_016277.5(RAB23):c.481G>C (p.Val161Leu) rs1060505026
NM_016277.5(RAB23):c.5del (p.Leu2fs)
NM_016277.5(RAB23):c.82C>T (p.Arg28Ter) rs765443042
NM_016277.5(RAB23):c.86dup (p.Tyr29Ter)

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