ClinVar Miner

List of variants studied for cardiospondylocarpofacial syndrome by OMIM

Included ClinVar conditions (2):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 5
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HGVS dbSNP gnomAD frequency
NM_145331.3(MAP3K7):c.130_135del (p.Arg44_Gly45del) rs886039234
NM_145331.3(MAP3K7):c.145GTT[1] (p.Val50del) rs886039236
NM_145331.3(MAP3K7):c.328G>T (p.Gly110Cys) rs886039235
NM_145331.3(MAP3K7):c.721T>A (p.Trp241Arg) rs886039237
NM_145331.3(MAP3K7):c.737-7A>G rs1776199533

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