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

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Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 14

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HGVS	dbSNP	gnomAD frequency
NM_002755.4(MAP2K1):c.198C>T (p.Asp66=)	rs56200325	0.00004
NM_002755.4(MAP2K1):c.251A>G (p.Lys84Arg)	rs774932586	0.00001
NM_002755.4(MAP2K1):c.366C>T (p.Asn122=)	rs990673168	0.00001
NM_002755.4(MAP2K1):c.961C>T (p.Pro321Ser)	rs771613524	0.00001
NM_002755.4(MAP2K1):c.1023-4T>A
NM_002755.4(MAP2K1):c.1023-4T>G	rs1462240441
NM_002755.4(MAP2K1):c.174G>T (p.Gln58His)	rs2093484335
NM_002755.4(MAP2K1):c.275T>G (p.Leu92Arg)	rs397516791
NM_002755.4(MAP2K1):c.323G>T (p.Arg108Leu)	rs727504819
NM_002755.4(MAP2K1):c.370C>A (p.Pro124Thr)	rs1057519732
NM_002755.4(MAP2K1):c.370C>T (p.Pro124Ser)	rs1057519732
NM_002755.4(MAP2K1):c.481A>G (p.Ile161Val)	rs2140598087
NM_002755.4(MAP2K1):c.516+1G>A	rs1240248728
NM_002755.4(MAP2K1):c.568+4A>G

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