ClinVar Miner

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

Included ClinVar conditions (23):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 14
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HGVS dbSNP
NM_002755.3(MAP2K1):c.*148_*149delTT rs745540522
NM_002755.3(MAP2K1):c.*245G>A rs886051367
NM_002755.3(MAP2K1):c.*614G>T rs886051368
NM_002755.3(MAP2K1):c.*615G>T rs886051369
NM_002755.3(MAP2K1):c.*780T>C rs770655370
NM_002755.3(MAP2K1):c.*890A>G rs138560168
NM_002755.3(MAP2K1):c.*897T>C rs548081932
NM_002755.3(MAP2K1):c.*917delA rs886051370
NM_002755.3(MAP2K1):c.*917dupA rs886051370
NM_002755.3(MAP2K1):c.1068+12_1068+15delTATT rs397516788
NM_002755.3(MAP2K1):c.1068+9A>G rs368800650
NM_002755.3(MAP2K1):c.1069-12C>A rs781412352
NM_002755.3(MAP2K1):c.1130C>T (p.Ser377Phe) rs371140798
NM_002755.3(MAP2K1):c.1137C>T (p.Ile379=) rs150841154

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