ClinVar Miner

List of variants studied for Frank-Ter Haar syndrome

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 217
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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.*1199T>C rs10050631 0.60340
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.-167C>G rs112436148 0.28425
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.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.*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.*3815del rs151201604 0.01227
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.2477C>T (p.Pro826Leu) rs73317796 0.01063
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.*3629C>A rs187661302 0.00476
NM_001017995.3(SH3PXD2B):c.*2592G>A rs112710819 0.00451
NM_001017995.3(SH3PXD2B):c.*3202C>T rs180938966 0.00429
NM_001017995.3(SH3PXD2B):c.*2449G>T rs182625015 0.00415
NM_001017995.3(SH3PXD2B):c.1638G>A (p.Thr546=) rs73317800 0.00411
NM_001017995.3(SH3PXD2B):c.*1478T>C rs144551299 0.00374
NM_001017995.3(SH3PXD2B):c.*2262G>A rs115503927 0.00373
NM_001017995.3(SH3PXD2B):c.*571C>T rs150134055 0.00371
NM_001017995.3(SH3PXD2B):c.*642C>T rs192181401 0.00363
NM_001017995.3(SH3PXD2B):c.*306C>A rs142853015 0.00345
NM_001017995.3(SH3PXD2B):c.1333A>G (p.Thr445Ala) rs146081598 0.00344
NM_001017995.3(SH3PXD2B):c.*2469C>T rs116591814 0.00299
NM_001017995.3(SH3PXD2B):c.*2885A>T rs186204526 0.00267
NM_001017995.3(SH3PXD2B):c.*235T>C rs147011482 0.00246
NM_001017995.3(SH3PXD2B):c.843G>A (p.Glu281=) rs138021995 0.00215
NM_001017995.3(SH3PXD2B):c.*3989G>A rs114644223 0.00212
NM_001017995.3(SH3PXD2B):c.427+14C>G rs79535495 0.00188
NM_001017995.3(SH3PXD2B):c.*789T>A rs150961242 0.00172
NM_001017995.3(SH3PXD2B):c.*957C>T rs79360524 0.00167
NM_001017995.3(SH3PXD2B):c.*4736A>G rs527408109 0.00161
NM_001017995.3(SH3PXD2B):c.*877G>A rs562551012 0.00128
NM_001017995.3(SH3PXD2B):c.*2275G>C rs543454877 0.00122
NM_001017995.3(SH3PXD2B):c.*4102G>T rs569577287 0.00096
NM_001017995.3(SH3PXD2B):c.*843G>A rs143482443 0.00096
NM_001017995.3(SH3PXD2B):c.*4283G>A rs181895676 0.00091
NM_001017995.3(SH3PXD2B):c.*4420A>G rs564001567 0.00086
NM_001017995.3(SH3PXD2B):c.*707C>T rs7705886 0.00083
NM_001017995.3(SH3PXD2B):c.*2543A>G rs545661827 0.00078
NM_001017995.3(SH3PXD2B):c.2227G>A (p.Val743Met) rs141103005 0.00074
NM_001017995.3(SH3PXD2B):c.*2676G>A rs553703806 0.00064
NM_001017995.3(SH3PXD2B):c.996C>T (p.Asp332=) rs142552959 0.00062
NM_001017995.3(SH3PXD2B):c.1602G>A (p.Gly534=) rs144228973 0.00061
NM_001017995.3(SH3PXD2B):c.76-4G>A rs144523953 0.00055
NM_001017995.3(SH3PXD2B):c.*2538T>C rs114974765 0.00054
NM_001017995.3(SH3PXD2B):c.*3358G>A rs148268201 0.00053
NM_001017995.3(SH3PXD2B):c.430G>T (p.Gly144Cys) rs368080609 0.00051
NM_001017995.3(SH3PXD2B):c.2093G>A (p.Arg698Gln) rs144659619 0.00048
NM_001017995.3(SH3PXD2B):c.*958G>A rs76230855 0.00044
NM_001017995.3(SH3PXD2B):c.1291G>A (p.Ala431Thr) rs142779141 0.00041
NM_001017995.3(SH3PXD2B):c.*2684G>A rs746018462 0.00039
NM_001017995.3(SH3PXD2B):c.*171G>A rs187872276 0.00034
NM_001017995.3(SH3PXD2B):c.*2666G>T rs150647285 0.00034
NM_001017995.3(SH3PXD2B):c.*323C>T rs886060420 0.00032
NM_001017995.3(SH3PXD2B):c.1512G>A (p.Ala504=) rs140645910 0.00032
NM_001017995.3(SH3PXD2B):c.*1607A>G rs537907753 0.00031
NM_001017995.3(SH3PXD2B):c.*2438A>G rs760267846 0.00029
NM_001017995.3(SH3PXD2B):c.*3595G>A rs764695584 0.00026
NM_001017995.3(SH3PXD2B):c.693G>A (p.Pro231=) rs143272304 0.00026
NM_001017995.3(SH3PXD2B):c.*3714C>T rs763489617 0.00024
NM_001017995.3(SH3PXD2B):c.*1429C>T rs189080320 0.00023
NM_001017995.3(SH3PXD2B):c.-40C>T rs766273502 0.00022
NM_001017995.3(SH3PXD2B):c.*3411G>A rs143165580 0.00021
NM_001017995.3(SH3PXD2B):c.2189C>T (p.Pro730Leu) rs766153965 0.00019
NM_001017995.3(SH3PXD2B):c.*1751T>C rs933182889 0.00017
NM_001017995.3(SH3PXD2B):c.*698C>T rs563375592 0.00017
NM_001017995.3(SH3PXD2B):c.*4561G>A rs755005384 0.00014
NM_001017995.3(SH3PXD2B):c.*3359C>T rs886060411 0.00013
NM_001017995.3(SH3PXD2B):c.*3365A>G rs766100701 0.00013
NM_001017995.3(SH3PXD2B):c.453C>T (p.Pro151=) rs143060223 0.00011
NM_001017995.3(SH3PXD2B):c.997G>A (p.Gly333Ser) rs138316493 0.00011
NM_001017995.3(SH3PXD2B):c.*2066G>T rs761912938 0.00010
NM_001017995.3(SH3PXD2B):c.*600G>C rs1000527973 0.00010
NM_001017995.3(SH3PXD2B):c.1403G>A (p.Arg468Gln) rs144424788 0.00010
NM_001017995.3(SH3PXD2B):c.1596G>A (p.Ser532=) rs539320171 0.00010
NM_001017995.3(SH3PXD2B):c.66C>T (p.Asn22=) rs762908120 0.00010
NM_001017995.3(SH3PXD2B):c.*2826G>A rs574402138 0.00009
NM_001017995.3(SH3PXD2B):c.*902G>A rs1030376142 0.00009
NM_001017995.3(SH3PXD2B):c.966C>T (p.Asp322=) rs375297664 0.00009
NM_001017995.3(SH3PXD2B):c.*1913C>T rs751403291 0.00008
NM_001017995.3(SH3PXD2B):c.*300G>A rs182912323 0.00008
NM_001017995.3(SH3PXD2B):c.*3226C>A rs188985186 0.00007
NM_001017995.3(SH3PXD2B):c.1326C>T (p.His442=) rs201324424 0.00006
NM_001017995.3(SH3PXD2B):c.*1430G>A rs569099248 0.00005
NM_001017995.3(SH3PXD2B):c.233-14C>G rs373422860 0.00005
NM_001017995.3(SH3PXD2B):c.926C>T (p.Ala309Val) rs755251609 0.00005
NM_001017995.3(SH3PXD2B):c.*1379T>C rs572250218 0.00004
NM_001017995.3(SH3PXD2B):c.*3388C>T rs989362848 0.00004
NM_001017995.3(SH3PXD2B):c.*4489C>T rs929924726 0.00004
NM_001017995.3(SH3PXD2B):c.*4665_*4668del rs550289556 0.00004
NM_001017995.3(SH3PXD2B):c.1492G>A (p.Ala498Thr) rs201272196 0.00004
NM_001017995.3(SH3PXD2B):c.1956G>A (p.Thr652=) rs374735849 0.00004
NM_001017995.3(SH3PXD2B):c.2124C>T (p.Arg708=) rs370525113 0.00004
NM_001017995.3(SH3PXD2B):c.2454G>A (p.Thr818=) rs147491999 0.00004
NM_001017995.3(SH3PXD2B):c.2456G>A (p.Arg819Gln) rs200899339 0.00004
NM_001017995.3(SH3PXD2B):c.*1346G>A rs886060415 0.00003
NM_001017995.3(SH3PXD2B):c.*2203T>C rs542106715 0.00003
NM_001017995.3(SH3PXD2B):c.*2991T>G rs886060412 0.00003
NM_001017995.3(SH3PXD2B):c.*4805G>A rs886060406 0.00003
NM_001017995.3(SH3PXD2B):c.*636G>A rs564486072 0.00003
NM_001017995.3(SH3PXD2B):c.1671G>A (p.Pro557=) rs765762255 0.00003
NM_001017995.3(SH3PXD2B):c.*158G>A rs1449362212 0.00002
NM_001017995.3(SH3PXD2B):c.*2355G>C rs1455968501 0.00002
NM_001017995.3(SH3PXD2B):c.*3227C>G rs1382165385 0.00002
NM_001017995.3(SH3PXD2B):c.*3858G>C rs1030131223 0.00002
NM_001017995.3(SH3PXD2B):c.1088C>T (p.Pro363Leu) rs372893835 0.00002
NM_001017995.3(SH3PXD2B):c.1984G>A (p.Asp662Asn) rs752042835 0.00002
NM_001017995.3(SH3PXD2B):c.42C>T (p.Asp14=) rs201996778 0.00002
NM_001017995.3(SH3PXD2B):c.*1246G>A rs776059475 0.00001
NM_001017995.3(SH3PXD2B):c.*2740A>G rs966705943 0.00001
NM_001017995.3(SH3PXD2B):c.*2825C>T rs915352896 0.00001
NM_001017995.3(SH3PXD2B):c.*2956G>A rs886060413 0.00001
NM_001017995.3(SH3PXD2B):c.*3006C>T rs539299765 0.00001
NM_001017995.3(SH3PXD2B):c.*3363T>C rs530641139 0.00001
NM_001017995.3(SH3PXD2B):c.*3935C>T rs886060409 0.00001
NM_001017995.3(SH3PXD2B):c.*4079C>T rs886060408 0.00001
NM_001017995.3(SH3PXD2B):c.1126A>G (p.Ile376Val) rs886060423 0.00001
NM_001017995.3(SH3PXD2B):c.1188+13G>A rs141265263 0.00001
NM_001017995.3(SH3PXD2B):c.127C>T (p.Arg43Trp) rs267607046 0.00001
NM_001017995.3(SH3PXD2B):c.1472G>A (p.Ser491Asn) rs886060422 0.00001
NM_001017995.3(SH3PXD2B):c.1616G>A (p.Arg539Gln) rs886239248 0.00001
NM_001017995.3(SH3PXD2B):c.2395C>T (p.Leu799Phe) rs562915075 0.00001
NM_001017995.3(SH3PXD2B):c.2487C>T (p.Thr829=) rs766920772 0.00001
NM_001017995.3(SH3PXD2B):c.450C>T (p.Asp150=) rs886060425 0.00001
NM_001017995.2(SH3PXD2B):c.1188+1773_2733+6592del
NM_001017995.3(SH3PXD2B):c.*1125G>A rs886060416
NM_001017995.3(SH3PXD2B):c.*1633C>T rs562026667
NM_001017995.3(SH3PXD2B):c.*1692G>T rs1426550561
NM_001017995.3(SH3PXD2B):c.*1862G>A rs139756702
NM_001017995.3(SH3PXD2B):c.*1862G>T rs139756702
NM_001017995.3(SH3PXD2B):c.*1928A>G rs1756692680
NM_001017995.3(SH3PXD2B):c.*2031C>T rs1581256488
NM_001017995.3(SH3PXD2B):c.*2309A>T rs886060414
NM_001017995.3(SH3PXD2B):c.*2930dup rs386405693
NM_001017995.3(SH3PXD2B):c.*3191C>T rs1461269348
NM_001017995.3(SH3PXD2B):c.*3327A>T rs1756654701
NM_001017995.3(SH3PXD2B):c.*3621G>A rs886060410
NM_001017995.3(SH3PXD2B):c.*3643A>T rs1756647025
NM_001017995.3(SH3PXD2B):c.*4266G>T rs919966597
NM_001017995.3(SH3PXD2B):c.*4328C>T rs572423054
NM_001017995.3(SH3PXD2B):c.*4693C>T rs886060407
NM_001017995.3(SH3PXD2B):c.*4773G>C rs146679204
NM_001017995.3(SH3PXD2B):c.*4804T>C rs12033
NM_001017995.3(SH3PXD2B):c.*4828del rs35951290
NM_001017995.3(SH3PXD2B):c.*4828dup rs35951290
NM_001017995.3(SH3PXD2B):c.*589C>T rs886060419
NM_001017995.3(SH3PXD2B):c.*636G>T rs564486072
NM_001017995.3(SH3PXD2B):c.*652_*654dup rs886060418
NM_001017995.3(SH3PXD2B):c.*861C>T rs886060417
NM_001017995.3(SH3PXD2B):c.-130C>G rs1362824889
NM_001017995.3(SH3PXD2B):c.-162C>G rs1299772895
NM_001017995.3(SH3PXD2B):c.1012+1G>T
NM_001017995.3(SH3PXD2B):c.1027A>G (p.Arg343Gly) rs1490267498
NM_001017995.3(SH3PXD2B):c.1063-7G>A rs186443822
NM_001017995.3(SH3PXD2B):c.1063-7G>T rs186443822
NM_001017995.3(SH3PXD2B):c.1284G>C (p.Thr428=) rs3812017
NM_001017995.3(SH3PXD2B):c.1326C>A (p.His442Gln) rs201324424
NM_001017995.3(SH3PXD2B):c.147dup (p.Asp50Ter) rs794728005
NM_001017995.3(SH3PXD2B):c.1554G>A (p.Glu518=) rs886060421
NM_001017995.3(SH3PXD2B):c.1610T>G (p.Leu537Arg) rs1027394288
NM_001017995.3(SH3PXD2B):c.1615C>T (p.Arg539Trp) rs199704139
NM_001017995.3(SH3PXD2B):c.1672G>A (p.Gly558Ser) rs536952235
NM_001017995.3(SH3PXD2B):c.1678A>T (p.Ile560Phe) rs1581259156
NM_001017995.3(SH3PXD2B):c.2079C>G (p.Asp693Glu) rs200804079
NM_001017995.3(SH3PXD2B):c.2374C>T (p.Pro792Ser) rs1756764977
NM_001017995.3(SH3PXD2B):c.2544C>T (p.Asp848=) rs149498667
NM_001017995.3(SH3PXD2B):c.2592C>A (p.Asp864Glu) rs1756757651
NM_001017995.3(SH3PXD2B):c.2601C>G (p.Thr867=) rs372013791
NM_001017995.3(SH3PXD2B):c.2626_2629del (p.Phe876fs) rs551498843
NM_001017995.3(SH3PXD2B):c.274G>A (p.Val92Ile) rs1758254485
NM_001017995.3(SH3PXD2B):c.401+1G>A rs367543284
NM_001017995.3(SH3PXD2B):c.427+14C>T rs79535495
NM_001017995.3(SH3PXD2B):c.452C>T (p.Pro151Leu)
NM_001017995.3(SH3PXD2B):c.567G>A (p.Trp189Ter) rs2113311300
NM_001017995.3(SH3PXD2B):c.667+14C>A rs886060424
NM_001017995.3(SH3PXD2B):c.76-2A>C rs775217258
NM_001017995.3(SH3PXD2B):c.884C>A (p.Pro295Gln) rs77955907
NM_001017995.3(SH3PXD2B):c.885G>A (p.Pro295=) rs145767631
NM_001017995.3(SH3PXD2B):c.899T>C (p.Leu300Ser) rs1757135183
NM_001017995.3(SH3PXD2B):c.913C>T (p.Arg305Trp) rs1156856878
NM_001017995.3(SH3PXD2B):c.969del (p.Arg324fs) rs794728006

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