ClinVar Miner

List of variants in gene combination MAP2K1, SNAPC5 reported as likely benign for RASopathy

Included ClinVar conditions (55):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 5
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HGVS dbSNP
NM_002755.3(MAP2K1):c.1068+9A>G rs368800650
NM_002755.3(MAP2K1):c.1098T>C (p.Ala366=) rs200293968
NM_006049.4(SNAPC5):c.22-206G>T rs14303
NM_006049.4(SNAPC5):c.22-323C>A rs56366941
NM_006049.4(SNAPC5):c.22-555C>T rs8684

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