ClinVar Miner

List of variants in gene SH3PXD2B reported as benign for Frank-Ter Haar syndrome

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 51
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HGVS dbSNP gnomAD frequency
NM_001017995.3(SH3PXD2B):c.563-11T>C rs2569232 0.73618
NM_001017995.3(SH3PXD2B):c.*3273G>T rs889023 0.67325
NM_001017995.3(SH3PXD2B):c.*1215A>G rs4424012 0.65711
NM_001017995.3(SH3PXD2B):c.*1253A>G rs869367 0.61967
NM_001017995.3(SH3PXD2B):c.*1271_*1272insG rs5873310 0.55962
NM_001017995.3(SH3PXD2B):c.*4827T>A rs3204110 0.55243
NM_001017995.3(SH3PXD2B):c.*2596A>G rs889024 0.54879
NM_001017995.3(SH3PXD2B):c.*2798T>C rs2339428 0.52906
NM_001017995.3(SH3PXD2B):c.*1839dup rs397720891 0.52230
NM_001017995.3(SH3PXD2B):c.*708G>A rs11134742 0.51487
NM_001017995.3(SH3PXD2B):c.*1511A>G rs869366 0.51400
NM_001017995.3(SH3PXD2B):c.105C>T (p.Ser35=) rs17074773 0.29312
NM_001017995.3(SH3PXD2B):c.-67C>T rs139600850 0.28497
NM_001017995.3(SH3PXD2B):c.*1159C>T rs7701410 0.13367
NM_001017995.3(SH3PXD2B):c.*4035G>A rs17074644 0.10577
NM_001017995.3(SH3PXD2B):c.*754G>A rs7705594 0.08314
NM_001017995.3(SH3PXD2B):c.-56C>G rs62385470 0.06899
NM_001017995.3(SH3PXD2B):c.*624A>G rs7725797 0.05267
NM_001017995.3(SH3PXD2B):c.*2057T>C rs28639552 0.04239
NM_001017995.3(SH3PXD2B):c.*3936G>A rs74364058 0.04029
NM_001017995.3(SH3PXD2B):c.*2032G>A rs11953725 0.03777
NM_001017995.3(SH3PXD2B):c.1013-27A>G rs17074690 0.03657
NM_001017995.3(SH3PXD2B):c.*1750T>C rs3812019 0.02978
NM_001017995.3(SH3PXD2B):c.*4828T>A rs1139996 0.02396
NM_001017995.3(SH3PXD2B):c.1062+15G>A rs111572530 0.01650
NM_001017995.3(SH3PXD2B):c.-79C>A rs372849248 0.01507
NM_001017995.3(SH3PXD2B):c.*2127A>C rs28620195 0.01487
NM_001017995.3(SH3PXD2B):c.522C>T (p.Ser174=) rs76299613 0.01422
NM_001017995.3(SH3PXD2B):c.1063-8C>T rs76931006 0.01268
NM_001017995.3(SH3PXD2B):c.1063-9T>C rs189684298 0.01238
NM_001017995.3(SH3PXD2B):c.*1683T>C rs573097315 0.01079
NM_001017995.3(SH3PXD2B):c.*14T>C rs73317794 0.01064
NM_001017995.3(SH3PXD2B):c.986C>T (p.Pro329Leu) rs75198607 0.01032
NM_001017995.3(SH3PXD2B):c.*2888G>C rs112169605 0.01004
NM_001017995.3(SH3PXD2B):c.1543G>A (p.Asp515Asn) rs62621449 0.00992
NM_001017995.3(SH3PXD2B):c.*3277T>C rs116406895 0.00963
NM_001017995.3(SH3PXD2B):c.232+4G>A rs79926304 0.00899
NM_001017995.3(SH3PXD2B):c.*3119T>C rs142919253 0.00728
NM_001017995.3(SH3PXD2B):c.*3114A>G rs147455605 0.00726
NM_001017995.3(SH3PXD2B):c.*294C>A rs76956436 0.00606
NM_001017995.3(SH3PXD2B):c.*2783A>G rs114303017 0.00545
NM_001017995.3(SH3PXD2B):c.*2592G>A rs112710819 0.00451
NM_001017995.3(SH3PXD2B):c.1638G>A (p.Thr546=) rs73317800 0.00411
NM_001017995.3(SH3PXD2B):c.*571C>T rs150134055 0.00371
NM_001017995.3(SH3PXD2B):c.1333A>G (p.Thr445Ala) rs146081598 0.00344
NM_001017995.3(SH3PXD2B):c.427+14C>G rs79535495 0.00188
NM_001017995.3(SH3PXD2B):c.*2930dup rs386405693
NM_001017995.3(SH3PXD2B):c.*4804T>C rs12033
NM_001017995.3(SH3PXD2B):c.*4828del rs35951290
NM_001017995.3(SH3PXD2B):c.1284G>C (p.Thr428=) rs3812017
NM_001017995.3(SH3PXD2B):c.884C>A (p.Pro295Gln) rs77955907

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