ClinVar Miner

List of variants in gene MAP3K7 studied for filamin-related bone disorder

Included ClinVar conditions (26):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 25
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HGVS dbSNP gnomAD frequency
NM_145331.3(MAP3K7):c.868-17T>A rs745706611 0.00001
NM_145331.3(MAP3K7):c.122TTG[1] (p.Val42del) rs1582233787
NM_145331.3(MAP3K7):c.124G>T (p.Val42Phe)
NM_145331.3(MAP3K7):c.130_135del (p.Arg44_Gly45del) rs886039234
NM_145331.3(MAP3K7):c.1351G>A (p.Gly451Ser) rs1775677189
NM_145331.3(MAP3K7):c.1356+9A>G rs1775676533
NM_145331.3(MAP3K7):c.143G>A (p.Gly48Glu) rs1776911945
NM_145331.3(MAP3K7):c.145GTT[1] (p.Val50del) rs886039236
NM_145331.3(MAP3K7):c.1535C>T (p.Pro512Leu) rs886039230
NM_145331.3(MAP3K7):c.208G>C (p.Glu70Gln) rs886039231
NM_145331.3(MAP3K7):c.248G>A (p.Arg83His) rs929527043
NM_145331.3(MAP3K7):c.299T>A (p.Val100Glu) rs886039232
NM_145331.3(MAP3K7):c.328G>T (p.Gly110Cys) rs886039235
NM_145331.3(MAP3K7):c.502G>C (p.Gly168Arg) rs886039233
NM_145331.3(MAP3K7):c.512T>C (p.Leu171Pro)
NM_145331.3(MAP3K7):c.608-1G>A rs1180249151
NM_145331.3(MAP3K7):c.616T>G (p.Tyr206Asp) rs2127975274
NM_145331.3(MAP3K7):c.631G>A (p.Asp211Asn)
NM_145331.3(MAP3K7):c.632A>G (p.Asp211Gly) rs1776245887
NM_145331.3(MAP3K7):c.721T>A (p.Trp241Arg) rs886039237
NM_145331.3(MAP3K7):c.737-7A>G rs1776199533
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
NM_145331.3(MAP3K7):c.815C>A (p.Ser272Tyr) rs2127974446

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