List of variants in gene MAP2K1 studied for primary lymphedema

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
		ClinVar version:

Total variants: 16

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HGVS	dbSNP	gnomAD frequency
NM_002755.4(MAP2K1):c.237C>T (p.Gly79=)	rs148656020	0.00024
NM_002755.4(MAP2K1):c.322C>T (p.Arg108Trp)	rs1298033161	0.00001
NM_002755.4(MAP2K1):c.693+20T>C	rs753107656	0.00001
NM_002755.4(MAP2K1):c.961C>T (p.Pro321Ser)	rs771613524	0.00001
NM_002755.4(MAP2K1):c.199G>A (p.Asp67Asn)	rs727504317
NM_002755.4(MAP2K1):c.291+14_291+20delinsTCTCACCAATCACCA	rs1064795401
NM_002755.4(MAP2K1):c.308T>C (p.Ile103Thr)
NM_002755.4(MAP2K1):c.323G>T (p.Arg108Leu)	rs727504819
NM_002755.4(MAP2K1):c.364A>G (p.Asn122Asp)	rs876657651
NM_002755.4(MAP2K1):c.370C>T (p.Pro124Ser)	rs1057519732
NM_002755.4(MAP2K1):c.389A>G (p.Tyr130Cys)	rs121908595
NM_002755.4(MAP2K1):c.577C>G (p.Pro193Ala)	rs1595884713
NM_002755.4(MAP2K1):c.608A>C (p.Glu203Ala)
NM_002755.4(MAP2K1):c.608A>G (p.Glu203Gly)	rs727503996
NM_002755.4(MAP2K1):c.694-12TC[4]	rs113913469
NM_002755.4(MAP2K1):c.872G>A (p.Arg291Lys)	rs1595886354

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