ClinVar Miner

List of variants reported as benign for Frank-Ter Haar syndrome by Illumina Clinical Services Laboratory,Illumina

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 50
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HGVS dbSNP
NM_001017995.3(SH3PXD2B):c.*1159C>T rs7701410
NM_001017995.3(SH3PXD2B):c.*1215A>G rs4424012
NM_001017995.3(SH3PXD2B):c.*1253A>G rs869367
NM_001017995.3(SH3PXD2B):c.*1271_*1272insG rs5873310
NM_001017995.3(SH3PXD2B):c.*14T>C rs73317794
NM_001017995.3(SH3PXD2B):c.*1511A>G rs869366
NM_001017995.3(SH3PXD2B):c.*1683T>C rs573097315
NM_001017995.3(SH3PXD2B):c.*1750T>C rs3812019
NM_001017995.3(SH3PXD2B):c.*1839dup rs397720891
NM_001017995.3(SH3PXD2B):c.*2032G>A rs11953725
NM_001017995.3(SH3PXD2B):c.*2057T>C rs28639552
NM_001017995.3(SH3PXD2B):c.*2127A>C rs28620195
NM_001017995.3(SH3PXD2B):c.*2592G>A
NM_001017995.3(SH3PXD2B):c.*2596A>G rs889024
NM_001017995.3(SH3PXD2B):c.*2783A>G rs114303017
NM_001017995.3(SH3PXD2B):c.*2798T>C rs2339428
NM_001017995.3(SH3PXD2B):c.*2888G>C
NM_001017995.3(SH3PXD2B):c.*2930dup rs386405693
NM_001017995.3(SH3PXD2B):c.*294C>A rs76956436
NM_001017995.3(SH3PXD2B):c.*3114A>G
NM_001017995.3(SH3PXD2B):c.*3119T>C rs142919253
NM_001017995.3(SH3PXD2B):c.*3273G>T rs889023
NM_001017995.3(SH3PXD2B):c.*3277T>C rs116406895
NM_001017995.3(SH3PXD2B):c.*3936G>A rs74364058
NM_001017995.3(SH3PXD2B):c.*4035G>A rs17074644
NM_001017995.3(SH3PXD2B):c.*4804T>C rs12033
NM_001017995.3(SH3PXD2B):c.*4827T>A rs3204110
NM_001017995.3(SH3PXD2B):c.*4828T>A rs1139996
NM_001017995.3(SH3PXD2B):c.*4828del rs35951290
NM_001017995.3(SH3PXD2B):c.*571C>T rs150134055
NM_001017995.3(SH3PXD2B):c.*624A>G rs7725797
NM_001017995.3(SH3PXD2B):c.*708G>A rs11134742
NM_001017995.3(SH3PXD2B):c.*754G>A rs7705594
NM_001017995.3(SH3PXD2B):c.-56C>G rs62385470
NM_001017995.3(SH3PXD2B):c.-67C>T rs139600850
NM_001017995.3(SH3PXD2B):c.-79C>A rs372849248
NM_001017995.3(SH3PXD2B):c.105C>T (p.Ser35=) rs17074773
NM_001017995.3(SH3PXD2B):c.1062+15G>A rs111572530
NM_001017995.3(SH3PXD2B):c.1063-8C>T rs76931006
NM_001017995.3(SH3PXD2B):c.1063-9T>C rs189684298
NM_001017995.3(SH3PXD2B):c.1284G>C (p.Thr428=) rs3812017
NM_001017995.3(SH3PXD2B):c.1333A>G (p.Thr445Ala)
NM_001017995.3(SH3PXD2B):c.1543G>A (p.Asp515Asn) rs62621449
NM_001017995.3(SH3PXD2B):c.1638G>A (p.Thr546=) rs73317800
NM_001017995.3(SH3PXD2B):c.232+4G>A rs79926304
NM_001017995.3(SH3PXD2B):c.427+14C>G rs79535495
NM_001017995.3(SH3PXD2B):c.522C>T (p.Ser174=) rs76299613
NM_001017995.3(SH3PXD2B):c.563-11T>C rs2569232
NM_001017995.3(SH3PXD2B):c.884C>A (p.Pro295Gln) rs77955907
NM_001017995.3(SH3PXD2B):c.986C>T (p.Pro329Leu)

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