ClinVar Miner

List of variants studied for Frank-Ter Haar syndrome by OMIM

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
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ClinVar version:
Total variants: 6
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NM_001017995.3(SH3PXD2B):c.127C>T (p.Arg43Trp) rs267607046
NM_001017995.3(SH3PXD2B):c.147dup (p.Asp50Ter) rs794728005
NM_001017995.3(SH3PXD2B):c.401+1G>A rs367543284
NM_001017995.3(SH3PXD2B):c.76-2A>C rs775217258
NM_001017995.3(SH3PXD2B):c.969del (p.Arg324fs) rs794728006

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