ClinVar Miner

List of variants reported as likely pathogenic for Carpenter syndrome

Included ClinVar conditions (3):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 18
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HGVS dbSNP gnomAD frequency
NM_016277.5(RAB23):c.145C>T (p.Arg49Ter) rs1049674573 0.00001
NM_016277.5(RAB23):c.82C>T (p.Arg28Ter) rs765443042 0.00001
NC_000019.9:g.(42830583_42837756)_(42838366_42839186)del
NM_001271938.2(MEGF8):c.1741C>T (p.Gln581Ter)
NM_001271938.2(MEGF8):c.1784_1788+3del
NM_001271938.2(MEGF8):c.3351-2A>C rs2039397653
NM_001271938.2(MEGF8):c.3761+2T>C
NM_001271938.2(MEGF8):c.3931G>T (p.Glu1311Ter)
NM_001271938.2(MEGF8):c.7005+1G>T rs1224632697
NM_001271938.2(MEGF8):c.7024G>T (p.Glu2342Ter)
NM_001271938.2(MEGF8):c.739G>T (p.Gly247Cys) rs2039109372
NM_001271938.2(MEGF8):c.7970_7972del (p.Ser2657del) rs775004286
NM_016277.5(RAB23):c.156-1G>C rs373724159
NM_016277.5(RAB23):c.174_241+587delinsTTATCATTAA
NM_016277.5(RAB23):c.358_398+177delinsGGTGTACAGTTG rs2127998544
NM_016277.5(RAB23):c.481+1G>A
NM_016277.5(RAB23):c.482-1_486del rs2127997697
NM_016277.5(RAB23):c.559del (p.Ser187fs) rs2127997645

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