ClinVar Miner

List of variants studied for Frank-Ter Haar syndrome

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 210
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HGVS dbSNP
NM_001017995.2(SH3PXD2B):c.1188+1773_2733+6592del
NM_001017995.3(SH3PXD2B):c.*1125G>A rs886060416
NM_001017995.3(SH3PXD2B):c.*1159C>T rs7701410
NM_001017995.3(SH3PXD2B):c.*1199T>C
NM_001017995.3(SH3PXD2B):c.*1215A>G rs4424012
NM_001017995.3(SH3PXD2B):c.*1246G>A rs776059475
NM_001017995.3(SH3PXD2B):c.*1253A>G rs869367
NM_001017995.3(SH3PXD2B):c.*1271_*1272insG rs5873310
NM_001017995.3(SH3PXD2B):c.*1346G>A rs886060415
NM_001017995.3(SH3PXD2B):c.*1379T>C
NM_001017995.3(SH3PXD2B):c.*1429C>T rs189080320
NM_001017995.3(SH3PXD2B):c.*1430G>A rs569099248
NM_001017995.3(SH3PXD2B):c.*1478T>C
NM_001017995.3(SH3PXD2B):c.*14T>C rs73317794
NM_001017995.3(SH3PXD2B):c.*1511A>G rs869366
NM_001017995.3(SH3PXD2B):c.*158G>A
NM_001017995.3(SH3PXD2B):c.*1607A>G rs537907753
NM_001017995.3(SH3PXD2B):c.*1633C>T
NM_001017995.3(SH3PXD2B):c.*1683T>C rs573097315
NM_001017995.3(SH3PXD2B):c.*1692G>T
NM_001017995.3(SH3PXD2B):c.*171G>A
NM_001017995.3(SH3PXD2B):c.*1750T>C rs3812019
NM_001017995.3(SH3PXD2B):c.*1751T>C
NM_001017995.3(SH3PXD2B):c.*1839dup rs397720891
NM_001017995.3(SH3PXD2B):c.*1862G>A
NM_001017995.3(SH3PXD2B):c.*1862G>T
NM_001017995.3(SH3PXD2B):c.*1913C>T
NM_001017995.3(SH3PXD2B):c.*1928A>G
NM_001017995.3(SH3PXD2B):c.*2031C>T
NM_001017995.3(SH3PXD2B):c.*2032G>A rs11953725
NM_001017995.3(SH3PXD2B):c.*2057T>C rs28639552
NM_001017995.3(SH3PXD2B):c.*2066G>T rs761912938
NM_001017995.3(SH3PXD2B):c.*2127A>C rs28620195
NM_001017995.3(SH3PXD2B):c.*2203T>C
NM_001017995.3(SH3PXD2B):c.*2262G>A
NM_001017995.3(SH3PXD2B):c.*2275G>C
NM_001017995.3(SH3PXD2B):c.*2309A>T rs886060414
NM_001017995.3(SH3PXD2B):c.*2355G>C
NM_001017995.3(SH3PXD2B):c.*235T>C rs147011482
NM_001017995.3(SH3PXD2B):c.*2438A>G rs760267846
NM_001017995.3(SH3PXD2B):c.*2449G>T
NM_001017995.3(SH3PXD2B):c.*2469C>T
NM_001017995.3(SH3PXD2B):c.*2538T>C
NM_001017995.3(SH3PXD2B):c.*2543A>G rs545661827
NM_001017995.3(SH3PXD2B):c.*2592G>A
NM_001017995.3(SH3PXD2B):c.*2596A>G rs889024
NM_001017995.3(SH3PXD2B):c.*2666G>T
NM_001017995.3(SH3PXD2B):c.*2676G>A rs553703806
NM_001017995.3(SH3PXD2B):c.*2684G>A
NM_001017995.3(SH3PXD2B):c.*2740A>G
NM_001017995.3(SH3PXD2B):c.*2783A>G rs114303017
NM_001017995.3(SH3PXD2B):c.*2798T>C rs2339428
NM_001017995.3(SH3PXD2B):c.*2825C>T
NM_001017995.3(SH3PXD2B):c.*2826G>A
NM_001017995.3(SH3PXD2B):c.*2885A>T rs186204526
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.*2956G>A rs886060413
NM_001017995.3(SH3PXD2B):c.*2991T>G rs886060412
NM_001017995.3(SH3PXD2B):c.*3006C>T rs539299765
NM_001017995.3(SH3PXD2B):c.*300G>A
NM_001017995.3(SH3PXD2B):c.*306C>A rs142853015
NM_001017995.3(SH3PXD2B):c.*3114A>G
NM_001017995.3(SH3PXD2B):c.*3119T>C rs142919253
NM_001017995.3(SH3PXD2B):c.*3191C>T
NM_001017995.3(SH3PXD2B):c.*3202C>T rs180938966
NM_001017995.3(SH3PXD2B):c.*3226C>A
NM_001017995.3(SH3PXD2B):c.*3227C>G
NM_001017995.3(SH3PXD2B):c.*323C>T rs886060420
NM_001017995.3(SH3PXD2B):c.*3273G>T rs889023
NM_001017995.3(SH3PXD2B):c.*3277T>C rs116406895
NM_001017995.3(SH3PXD2B):c.*3327A>T
NM_001017995.3(SH3PXD2B):c.*3358G>A
NM_001017995.3(SH3PXD2B):c.*3359C>T rs886060411
NM_001017995.3(SH3PXD2B):c.*3363T>C rs530641139
NM_001017995.3(SH3PXD2B):c.*3365A>G rs766100701
NM_001017995.3(SH3PXD2B):c.*3388C>T
NM_001017995.3(SH3PXD2B):c.*3411G>A
NM_001017995.3(SH3PXD2B):c.*3595G>A
NM_001017995.3(SH3PXD2B):c.*3621G>A rs886060410
NM_001017995.3(SH3PXD2B):c.*3629C>A
NM_001017995.3(SH3PXD2B):c.*3643A>T
NM_001017995.3(SH3PXD2B):c.*3714C>T
NM_001017995.3(SH3PXD2B):c.*3815del rs151201604
NM_001017995.3(SH3PXD2B):c.*3858G>C
NM_001017995.3(SH3PXD2B):c.*3935C>T rs886060409
NM_001017995.3(SH3PXD2B):c.*3936G>A rs74364058
NM_001017995.3(SH3PXD2B):c.*3989G>A
NM_001017995.3(SH3PXD2B):c.*4035G>A rs17074644
NM_001017995.3(SH3PXD2B):c.*4079C>T rs886060408
NM_001017995.3(SH3PXD2B):c.*4102G>T
NM_001017995.3(SH3PXD2B):c.*4266G>T
NM_001017995.3(SH3PXD2B):c.*4283G>A rs181895676
NM_001017995.3(SH3PXD2B):c.*4328C>T rs572423054
NM_001017995.3(SH3PXD2B):c.*4420A>G rs564001567
NM_001017995.3(SH3PXD2B):c.*4489C>T
NM_001017995.3(SH3PXD2B):c.*4561G>A rs755005384
NM_001017995.3(SH3PXD2B):c.*4665_*4668del rs550289556
NM_001017995.3(SH3PXD2B):c.*4693C>T rs886060407
NM_001017995.3(SH3PXD2B):c.*4736A>G rs527408109
NM_001017995.3(SH3PXD2B):c.*4773G>C
NM_001017995.3(SH3PXD2B):c.*4804T>C rs12033
NM_001017995.3(SH3PXD2B):c.*4805G>A rs886060406
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.*4828dup rs35951290
NM_001017995.3(SH3PXD2B):c.*571C>T rs150134055
NM_001017995.3(SH3PXD2B):c.*589C>T rs886060419
NM_001017995.3(SH3PXD2B):c.*600G>C
NM_001017995.3(SH3PXD2B):c.*624A>G rs7725797
NM_001017995.3(SH3PXD2B):c.*636G>A rs564486072
NM_001017995.3(SH3PXD2B):c.*636G>T rs564486072
NM_001017995.3(SH3PXD2B):c.*642C>T rs192181401
NM_001017995.3(SH3PXD2B):c.*652_*654dup rs886060418
NM_001017995.3(SH3PXD2B):c.*698C>T
NM_001017995.3(SH3PXD2B):c.*707C>T rs7705886
NM_001017995.3(SH3PXD2B):c.*708G>A rs11134742
NM_001017995.3(SH3PXD2B):c.*754G>A rs7705594
NM_001017995.3(SH3PXD2B):c.*789T>A rs150961242
NM_001017995.3(SH3PXD2B):c.*843G>A rs143482443
NM_001017995.3(SH3PXD2B):c.*861C>T rs886060417
NM_001017995.3(SH3PXD2B):c.*877G>A
NM_001017995.3(SH3PXD2B):c.*902G>A
NM_001017995.3(SH3PXD2B):c.*957C>T rs79360524
NM_001017995.3(SH3PXD2B):c.*958G>A rs76230855
NM_001017995.3(SH3PXD2B):c.-130C>G
NM_001017995.3(SH3PXD2B):c.-162C>G
NM_001017995.3(SH3PXD2B):c.-167C>G
NM_001017995.3(SH3PXD2B):c.-40C>T rs766273502
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.1027A>G (p.Arg343Gly)
NM_001017995.3(SH3PXD2B):c.105C>T (p.Ser35=) rs17074773
NM_001017995.3(SH3PXD2B):c.1062+15G>A rs111572530
NM_001017995.3(SH3PXD2B):c.1063-7G>A rs186443822
NM_001017995.3(SH3PXD2B):c.1063-7G>T rs186443822
NM_001017995.3(SH3PXD2B):c.1063-8C>T rs76931006
NM_001017995.3(SH3PXD2B):c.1063-9T>C rs189684298
NM_001017995.3(SH3PXD2B):c.1088C>T (p.Pro363Leu)
NM_001017995.3(SH3PXD2B):c.1126A>G (p.Ile376Val) rs886060423
NM_001017995.3(SH3PXD2B):c.1188+13G>A rs141265263
NM_001017995.3(SH3PXD2B):c.127C>T (p.Arg43Trp) rs267607046
NM_001017995.3(SH3PXD2B):c.1284G>C (p.Thr428=) rs3812017
NM_001017995.3(SH3PXD2B):c.1291G>A (p.Ala431Thr) rs142779141
NM_001017995.3(SH3PXD2B):c.1326C>A (p.His442Gln) rs201324424
NM_001017995.3(SH3PXD2B):c.1326C>T (p.His442=)
NM_001017995.3(SH3PXD2B):c.1333A>G (p.Thr445Ala)
NM_001017995.3(SH3PXD2B):c.1403G>A (p.Arg468Gln) rs144424788
NM_001017995.3(SH3PXD2B):c.1472G>A (p.Ser491Asn) rs886060422
NM_001017995.3(SH3PXD2B):c.147dup (p.Asp50Ter) rs794728005
NM_001017995.3(SH3PXD2B):c.1492G>A (p.Ala498Thr)
NM_001017995.3(SH3PXD2B):c.1512G>A (p.Ala504=)
NM_001017995.3(SH3PXD2B):c.1543G>A (p.Asp515Asn) rs62621449
NM_001017995.3(SH3PXD2B):c.1554G>A (p.Glu518=) rs886060421
NM_001017995.3(SH3PXD2B):c.1596G>A (p.Ser532=)
NM_001017995.3(SH3PXD2B):c.1602G>A (p.Gly534=) rs144228973
NM_001017995.3(SH3PXD2B):c.1610T>G (p.Leu537Arg)
NM_001017995.3(SH3PXD2B):c.1616G>A (p.Arg539Gln)
NM_001017995.3(SH3PXD2B):c.1638G>A (p.Thr546=) rs73317800
NM_001017995.3(SH3PXD2B):c.1671G>A (p.Pro557=)
NM_001017995.3(SH3PXD2B):c.1672G>A (p.Gly558Ser)
NM_001017995.3(SH3PXD2B):c.1678A>T (p.Ile560Phe)
NM_001017995.3(SH3PXD2B):c.1712C>T (p.Pro571Leu) rs111230322
NM_001017995.3(SH3PXD2B):c.1956G>A (p.Thr652=) rs374735849
NM_001017995.3(SH3PXD2B):c.1983C>T (p.Val661=) rs73317798
NM_001017995.3(SH3PXD2B):c.1984G>A (p.Asp662Asn)
NM_001017995.3(SH3PXD2B):c.2079C>G (p.Asp693Glu)
NM_001017995.3(SH3PXD2B):c.2093G>A (p.Arg698Gln) rs144659619
NM_001017995.3(SH3PXD2B):c.2124C>T (p.Arg708=) rs370525113
NM_001017995.3(SH3PXD2B):c.2189C>T (p.Pro730Leu) rs766153965
NM_001017995.3(SH3PXD2B):c.2227G>A (p.Val743Met) rs141103005
NM_001017995.3(SH3PXD2B):c.232+4G>A rs79926304
NM_001017995.3(SH3PXD2B):c.233-14C>G
NM_001017995.3(SH3PXD2B):c.2374C>T (p.Pro792Ser)
NM_001017995.3(SH3PXD2B):c.2395C>T (p.Leu799Phe) rs562915075
NM_001017995.3(SH3PXD2B):c.2454G>A (p.Thr818=)
NM_001017995.3(SH3PXD2B):c.2456G>A (p.Arg819Gln) rs200899339
NM_001017995.3(SH3PXD2B):c.2477C>T (p.Pro826Leu) rs73317796
NM_001017995.3(SH3PXD2B):c.2487C>T (p.Thr829=)
NM_001017995.3(SH3PXD2B):c.2544C>T (p.Asp848=) rs149498667
NM_001017995.3(SH3PXD2B):c.2601C>G (p.Thr867=)
NM_001017995.3(SH3PXD2B):c.274G>A (p.Val92Ile)
NM_001017995.3(SH3PXD2B):c.401+1G>A rs367543284
NM_001017995.3(SH3PXD2B):c.427+14C>G rs79535495
NM_001017995.3(SH3PXD2B):c.427+14C>T
NM_001017995.3(SH3PXD2B):c.42C>T (p.Asp14=)
NM_001017995.3(SH3PXD2B):c.430G>T (p.Gly144Cys) rs368080609
NM_001017995.3(SH3PXD2B):c.450C>T (p.Asp150=) rs886060425
NM_001017995.3(SH3PXD2B):c.453C>T (p.Pro151=) rs143060223
NM_001017995.3(SH3PXD2B):c.522C>T (p.Ser174=) rs76299613
NM_001017995.3(SH3PXD2B):c.563-11T>C rs2569232
NM_001017995.3(SH3PXD2B):c.667+14C>A rs886060424
NM_001017995.3(SH3PXD2B):c.66C>T (p.Asn22=) rs762908120
NM_001017995.3(SH3PXD2B):c.693G>A (p.Pro231=)
NM_001017995.3(SH3PXD2B):c.76-2A>C rs775217258
NM_001017995.3(SH3PXD2B):c.76-4G>A rs144523953
NM_001017995.3(SH3PXD2B):c.843G>A (p.Glu281=) rs138021995
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)
NM_001017995.3(SH3PXD2B):c.913C>T (p.Arg305Trp)
NM_001017995.3(SH3PXD2B):c.926C>T (p.Ala309Val)
NM_001017995.3(SH3PXD2B):c.966C>T (p.Asp322=)
NM_001017995.3(SH3PXD2B):c.969del (p.Arg324fs) rs794728006
NM_001017995.3(SH3PXD2B):c.986C>T (p.Pro329Leu)
NM_001017995.3(SH3PXD2B):c.996C>T (p.Asp332=) rs142552959
NM_001017995.3(SH3PXD2B):c.997G>A (p.Gly333Ser) rs138316493

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