ClinVar Miner

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

Included ClinVar conditions (50):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 3
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HGVS dbSNP
NM_002755.4(MAP2K1):c.1068+12_1068+15del rs397516788
NM_002755.4(MAP2K1):c.1098T>C (p.Ala366=) rs200293968
NM_002755.4(MAP2K1):c.1137C>T (p.Ile379=) rs150841154

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