List of variants in gene MAP2K1 reported as uncertain significance for bone disorder

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 21

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HGVS	dbSNP	gnomAD frequency
NM_002755.4(MAP2K1):c.277G>A (p.Val93Ile)	rs151207265	0.00006
NM_002755.4(MAP2K1):c.56C>G (p.Ala19Gly)	rs727504413	0.00006
NM_002755.4(MAP2K1):c.427A>G (p.Met143Val)	rs533695080	0.00001
NM_002755.4(MAP2K1):c.516+3G>A	rs2140598348	0.00001
NM_002755.4(MAP2K1):c.71G>C (p.Ser24Thr)	rs1290055913	0.00001
NM_002755.4(MAP2K1):c.801T>A (p.Asp267Glu)	rs754086223	0.00001
NM_002755.4(MAP2K1):c.-7G>A
NM_002755.4(MAP2K1):c.1022+6T>G	rs781015814
NM_002755.4(MAP2K1):c.1030A>C (p.Lys344Gln)	rs1595888741
NM_002755.4(MAP2K1):c.427A>C (p.Met143Leu)
NM_002755.4(MAP2K1):c.428T>C (p.Met143Thr)
NM_002755.4(MAP2K1):c.439-19C>G
NM_002755.4(MAP2K1):c.510C>T (p.Ser170=)
NM_002755.4(MAP2K1):c.528C>T (p.Gly176=)
NM_002755.4(MAP2K1):c.568+2T>C
NM_002755.4(MAP2K1):c.80+5G>A
NM_002755.4(MAP2K1):c.875C>G (p.Thr292Ser)	rs397516794
NM_002755.4(MAP2K1):c.893G>C (p.Ser298Thr)
NM_002755.4(MAP2K1):c.896-5T>C	rs748953467
NM_002755.4(MAP2K1):c.914G>A (p.Arg305Gln)	rs1595887104
NM_002755.4(MAP2K1):c.961-10G>C	rs2140682882

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