ClinVar Miner

List of variants studied for lymphoid system disorder by MAGI'S LAB - Medical Genetics Laboratory, MAGI GROUP

Included ClinVar conditions (123):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 5
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HGVS dbSNP gnomAD frequency
NM_001378328.1(CELSR1):c.2042del (p.Asn681fs) rs1569226110
NM_001378328.1(CELSR1):c.5226+2T>A rs1569141899
NM_001378328.1(CELSR1):c.5702-1G>C rs1569133268
NM_001378328.1(CELSR1):c.6739+1G>A rs1569124017
NM_001378328.1(CELSR1):c.868G>T (p.Glu290Ter) rs1569227576

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