ClinVar Miner

List of variants reported as pathogenic for Carpenter syndrome by OMIM

Included ClinVar conditions (3):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 8
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HGVS dbSNP
MEGF8, GLY199ARG
NM_001410.2(MEGF8):c.1342C>T (p.Arg448Ter) rs397514621
NM_001410.2(MEGF8):c.4496G>A (p.Arg1499His) rs397515427
NM_001410.2(MEGF8):c.7099A>G (p.Ser2367Gly) rs397515428
NM_016277.4(RAB23):c.481G>C (p.Val161Leu) rs1060505026
NM_183227.2(RAB23):c.434T>A (p.Leu145Ter) rs121908171
RAB23, 1-BP DUP, 86A
RAB23, 1-BP INS, 408T

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