ClinVar Miner

List of variants in gene SH3PXD2B reported by GeneDx

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 81
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HGVS dbSNP gnomAD frequency
NM_001017995.3(SH3PXD2B):c.563-11T>C rs2569232 0.73618
NM_001017995.3(SH3PXD2B):c.401+165C>T rs7726175 0.54153
NM_001017995.3(SH3PXD2B):c.76-153T>G rs28414603 0.50478
NM_001017995.3(SH3PXD2B):c.156+131T>C rs6873315 0.50463
NM_001017995.3(SH3PXD2B):c.75+276T>C rs2569212 0.44569
NM_001017995.3(SH3PXD2B):c.401+274G>A rs2569226 0.44127
NM_001017995.3(SH3PXD2B):c.402-78T>C rs2731717 0.36560
NM_001017995.3(SH3PXD2B):c.76-275C>T rs28399353 0.33025
NM_001017995.3(SH3PXD2B):c.401+110G>A rs2731722 0.31693
NM_001017995.3(SH3PXD2B):c.233-285G>A rs11738073 0.29366
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.-167C>G rs112436148 0.28425
NM_001017995.3(SH3PXD2B):c.786-341G>T rs62385444 0.28253
NM_001017995.3(SH3PXD2B):c.1012+262A>G rs6884671 0.24020
NM_001017995.3(SH3PXD2B):c.1188+251A>G rs10051297 0.15742
NM_001017995.3(SH3PXD2B):c.1188+253C>T rs10073462 0.15268
NM_001017995.3(SH3PXD2B):c.785+264G>A rs13187132 0.09387
NM_001017995.3(SH3PXD2B):c.428-249C>T rs9313591 0.07564
NM_001017995.3(SH3PXD2B):c.-56C>G rs62385470 0.06899
NM_001017995.3(SH3PXD2B):c.310-121C>T rs114274833 0.06560
NM_001017995.3(SH3PXD2B):c.233-28A>G rs13356223 0.06542
NM_001017995.3(SH3PXD2B):c.157-116G>A rs10476024 0.06489
NM_001017995.3(SH3PXD2B):c.1063-202A>T rs116315878 0.05960
NM_001017995.3(SH3PXD2B):c.76-162G>A rs72846968 0.05277
NM_001017995.3(SH3PXD2B):c.667+138C>T rs74870739 0.05202
NM_001017995.3(SH3PXD2B):c.667+75T>C rs17703000 0.05201
NM_001017995.3(SH3PXD2B):c.563-168T>C rs75578956 0.05198
NM_001017995.3(SH3PXD2B):c.1063-80C>G rs11958108 0.05059
NM_001017995.3(SH3PXD2B):c.1063-245A>G rs17074687 0.04892
NM_001017995.3(SH3PXD2B):c.233-286C>T rs75198353 0.04057
NM_001017995.3(SH3PXD2B):c.1013-27A>G rs17074690 0.03657
NM_001017995.3(SH3PXD2B):c.75+190C>A rs145231158 0.03643
NM_001017995.3(SH3PXD2B):c.563-265C>G rs80172540 0.03606
NM_001017995.3(SH3PXD2B):c.310-295C>T rs115155020 0.03099
NM_001017995.3(SH3PXD2B):c.1188+189G>C rs57117749 0.02491
NM_001017995.3(SH3PXD2B):c.1712C>T (p.Pro571Leu) rs111230322 0.01893
NM_001017995.3(SH3PXD2B):c.1062+15G>A rs111572530 0.01650
NM_001017995.3(SH3PXD2B):c.1983C>T (p.Val661=) rs73317798 0.01510
NM_001017995.3(SH3PXD2B):c.-79C>A rs372849248 0.01507
NM_001017995.3(SH3PXD2B):c.1188+81T>G rs79509336 0.01467
NM_001017995.3(SH3PXD2B):c.562+50T>C rs76897113 0.01423
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.668-125del rs141877737 0.01166
NM_001017995.3(SH3PXD2B):c.668-241T>G rs73321647 0.01119
NM_001017995.3(SH3PXD2B):c.*14T>C rs73317794 0.01064
NM_001017995.3(SH3PXD2B):c.2477C>T (p.Pro826Leu) rs73317796 0.01063
NM_001017995.3(SH3PXD2B):c.402-331A>T rs184319712 0.01019
NM_001017995.3(SH3PXD2B):c.1543G>A (p.Asp515Asn) rs62621449 0.00992
NM_001017995.3(SH3PXD2B):c.402-204G>A rs114829454 0.00948
NM_001017995.3(SH3PXD2B):c.427+41G>A rs151165065 0.00929
NM_001017995.3(SH3PXD2B):c.428-168G>A rs116315801 0.00921
NM_001017995.3(SH3PXD2B):c.232+4G>A rs79926304 0.00899
NM_001017995.3(SH3PXD2B):c.1062+203C>T rs192999515 0.00449
NM_001017995.3(SH3PXD2B):c.1013-194G>A rs188267177 0.00416
NM_001017995.3(SH3PXD2B):c.1638G>A (p.Thr546=) rs73317800 0.00411
NM_001017995.3(SH3PXD2B):c.1333A>G (p.Thr445Ala) rs146081598 0.00344
NM_001017995.3(SH3PXD2B):c.1021A>G (p.Lys341Glu) rs145343254 0.00019
NM_001017995.3(SH3PXD2B):c.1342C>T (p.Arg448Trp) rs552171716 0.00001
NM_001017995.3(SH3PXD2B):c.212G>A (p.Arg71Gln) rs200536170 0.00001
NM_001017995.3(SH3PXD2B):c.2670G>C (p.Gln890His) rs1172633904 0.00001
NM_001017995.3(SH3PXD2B):c.1284G>C (p.Thr428=) rs3812017
NM_001017995.3(SH3PXD2B):c.128G>A (p.Arg43Gln)
NM_001017995.3(SH3PXD2B):c.1372A>G (p.Asn458Asp) rs2113256198
NM_001017995.3(SH3PXD2B):c.1678A>T (p.Ile560Phe) rs1581259156
NM_001017995.3(SH3PXD2B):c.2572G>A (p.Val858Met)
NM_001017995.3(SH3PXD2B):c.2618G>C (p.Gly873Ala) rs1428244591
NM_001017995.3(SH3PXD2B):c.309+167_309+170del rs111288764
NM_001017995.3(SH3PXD2B):c.396dup (p.Lys133fs) rs765784096
NM_001017995.3(SH3PXD2B):c.427+170GATG[11] rs10625047
NM_001017995.3(SH3PXD2B):c.427+170GATG[12] rs10625047
NM_001017995.3(SH3PXD2B):c.427+170GATG[5] rs10625047
NM_001017995.3(SH3PXD2B):c.433G>A (p.Asp145Asn)
NM_001017995.3(SH3PXD2B):c.45G>A (p.Val15=)
NM_001017995.3(SH3PXD2B):c.668-124dup rs11402887
NM_001017995.3(SH3PXD2B):c.75+148del rs146712497
NM_001017995.3(SH3PXD2B):c.786-309C>A rs144147623
NM_001017995.3(SH3PXD2B):c.846del (p.Leu283fs) rs886042037
NM_001017995.3(SH3PXD2B):c.884C>A (p.Pro295Gln) rs77955907

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