ClinVar Miner

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

Included ClinVar conditions (63):
Minimum submission review status: Collection method:
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Gene type:
ClinVar version:
Total variants: 6
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HGVS dbSNP gnomAD frequency
NM_002755.4(MAP2K1):c.*148_*149del rs745540522 0.00006
NM_002755.4(MAP2K1):c.1138G>A (p.Gly380Ser) rs750934083 0.00002
NM_002755.4(MAP2K1):c.1130C>T (p.Ser377Phe) rs371140798 0.00001
NM_002755.4(MAP2K1):c.*917del rs886051370
NM_002755.4(MAP2K1):c.*917dup rs886051370
NM_002755.4(MAP2K1):c.1068+12_1068+15del rs397516788

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