List of variants in gene MAP3K7 reported as uncertain significance for cardiospondylocarpofacial 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: 9

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HGVS	dbSNP	gnomAD frequency
NM_145331.3(MAP3K7):c.868-17T>A	rs745706611	0.00001
NM_145331.3(MAP3K7):c.124G>T (p.Val42Phe)
NM_145331.3(MAP3K7):c.248G>A (p.Arg83His)	rs929527043
NM_145331.3(MAP3K7):c.512T>C (p.Leu171Pro)
NM_145331.3(MAP3K7):c.631G>A (p.Asp211Asn)
NM_145331.3(MAP3K7):c.632A>G (p.Asp211Gly)	rs1776245887
NM_145331.3(MAP3K7):c.742C>G (p.Arg248Gly)
NM_145331.3(MAP3K7):c.793C>T (p.Arg265Cys)
NM_145331.3(MAP3K7):c.795TTG[1] (p.Cys266del)	rs2127974453

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