ClinVar Miner

List of variants in gene MAP2K1, SNAPC5 studied for Noonan syndrome

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Total variants: 5
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HGVS dbSNP
NM_002755.4(MAP2K1):c.*148_*149del rs745540522
NM_002755.4(MAP2K1):c.*917del rs886051370
NM_002755.4(MAP2K1):c.*917dup rs886051370
NM_002755.4(MAP2K1):c.1068+12_1068+15del rs397516788
NM_002755.4(MAP2K1):c.1072C>T (p.His358Tyr) rs1595889532

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