ClinVar Miner

List of variants in gene combination MAP2K1, SNAPC5 reported as uncertain significance for Noonan syndrome

Included ClinVar conditions (32):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 14
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NM_006049.4(SNAPC5):c.*169G>A rs150841154
NM_006049.4(SNAPC5):c.*176G>A rs371140798
NM_006049.4(SNAPC5):c.*249G>T rs781412352
NM_006049.4(SNAPC5):c.*961_*964AATA[1] rs397516788
NM_006049.4(SNAPC5):c.*967T>C rs368800650
NM_006049.4(SNAPC5):c.22-143C>T rs886051367
NM_006049.4(SNAPC5):c.22-47_22-46del rs745540522
NM_006049.4(SNAPC5):c.22-512C>A rs886051368
NM_006049.4(SNAPC5):c.22-513C>A rs886051369
NM_006049.4(SNAPC5):c.22-678A>G rs770655370
NM_006049.4(SNAPC5):c.22-788T>C rs138560168
NM_006049.4(SNAPC5):c.22-795A>G rs548081932
NM_006049.4(SNAPC5):c.22-806del rs886051370
NM_006049.4(SNAPC5):c.22-815dup rs886051370

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