ClinVar Miner

List of variants in gene combination MAP2K1, SNAPC5 reported as uncertain significance for canthal anomaly

Included ClinVar conditions (57):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 4
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HGVS dbSNP
NM_002755.4(MAP2K1):c.1068+12_1068+15del rs397516788
NM_006049.4(SNAPC5):c.22-47_22-46del rs745540522
NM_006049.4(SNAPC5):c.22-806del rs886051370
NM_006049.4(SNAPC5):c.22-815dup rs886051370

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