List of variants in gene MAP2K1 studied for Cardio-facio-cutaneous syndrome

Minimum submission review status:		Collection method:
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Gene type: Distinguish antisense genes from sense genes
		ClinVar version:

Total variants: 13

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HGVS	dbSNP	gnomAD frequency
NM_002755.4(MAP2K1):c.124C>T (p.Leu42Phe)	rs397516789
NM_002755.4(MAP2K1):c.137A>T (p.Gln46Leu)	rs1595860875
NM_002755.4(MAP2K1):c.158T>C (p.Phe53Ser)	rs121908594
NM_002755.4(MAP2K1):c.169A>C (p.Lys57Gln)	rs397516790
NM_002755.4(MAP2K1):c.171G>T (p.Lys57Asn)	rs869025608
NM_002755.4(MAP2K1):c.199G>A (p.Asp67Asn)	rs727504317
NM_002755.4(MAP2K1):c.275T>G (p.Leu92Arg)	rs397516791
NM_002755.4(MAP2K1):c.371C>T (p.Pro124Leu)	rs397516792
NM_002755.4(MAP2K1):c.374A>G (p.Tyr125Cys)	rs1595861880
NM_002755.4(MAP2K1):c.383G>T (p.Gly128Val)	rs121908596
NM_002755.4(MAP2K1):c.388T>C (p.Tyr130His)	rs397516793
NM_002755.4(MAP2K1):c.389A>G (p.Tyr130Cys)	rs121908595
NM_002755.4(MAP2K1):c.694-12TC[4]	rs113913469

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