ClinVar Miner

List of variants reported as uncertain significance for Frank-Ter Haar syndrome

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 131
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HGVS dbSNP
NM_001017995.3(SH3PXD2B):c.*1125G>A rs886060416
NM_001017995.3(SH3PXD2B):c.*1199T>C
NM_001017995.3(SH3PXD2B):c.*1246G>A rs776059475
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.*158G>A
NM_001017995.3(SH3PXD2B):c.*1607A>G rs537907753
NM_001017995.3(SH3PXD2B):c.*1633C>T
NM_001017995.3(SH3PXD2B):c.*1692G>T
NM_001017995.3(SH3PXD2B):c.*1751T>C
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.*2066G>T rs761912938
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.*2438A>G rs760267846
NM_001017995.3(SH3PXD2B):c.*2449G>T
NM_001017995.3(SH3PXD2B):c.*2469C>T
NM_001017995.3(SH3PXD2B):c.*2543A>G rs545661827
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.*2825C>T
NM_001017995.3(SH3PXD2B):c.*2826G>A
NM_001017995.3(SH3PXD2B):c.*2885A>T rs186204526
NM_001017995.3(SH3PXD2B):c.*2956G>A rs886060413
NM_001017995.3(SH3PXD2B):c.*2991T>G rs886060412
NM_001017995.3(SH3PXD2B):c.*300G>A
NM_001017995.3(SH3PXD2B):c.*3191C>T
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.*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.*3643A>T
NM_001017995.3(SH3PXD2B):c.*3714C>T
NM_001017995.3(SH3PXD2B):c.*3858G>C
NM_001017995.3(SH3PXD2B):c.*3935C>T rs886060409
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.*4805G>A rs886060406
NM_001017995.3(SH3PXD2B):c.*4828dup rs35951290
NM_001017995.3(SH3PXD2B):c.*589C>T rs886060419
NM_001017995.3(SH3PXD2B):c.*600G>C
NM_001017995.3(SH3PXD2B):c.*636G>A rs564486072
NM_001017995.3(SH3PXD2B):c.*636G>T rs564486072
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.*861C>T rs886060417
NM_001017995.3(SH3PXD2B):c.*877G>A
NM_001017995.3(SH3PXD2B):c.*902G>A
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.1027A>G (p.Arg343Gly)
NM_001017995.3(SH3PXD2B):c.1063-7G>A rs186443822
NM_001017995.3(SH3PXD2B):c.1063-7G>T rs186443822
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.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.1403G>A (p.Arg468Gln) rs144424788
NM_001017995.3(SH3PXD2B):c.1472G>A (p.Ser491Asn) rs886060422
NM_001017995.3(SH3PXD2B):c.1492G>A (p.Ala498Thr)
NM_001017995.3(SH3PXD2B):c.1512G>A (p.Ala504=) rs140645910
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.1671G>A (p.Pro557=)
NM_001017995.3(SH3PXD2B):c.1678A>T (p.Ile560Phe) rs1581259156
NM_001017995.3(SH3PXD2B):c.1956G>A (p.Thr652=) rs374735849
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.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.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.427+14C>T
NM_001017995.3(SH3PXD2B):c.42C>T (p.Asp14=)
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.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.76-4G>A rs144523953
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.996C>T (p.Asp332=) rs142552959
NM_001017995.3(SH3PXD2B):c.997G>A (p.Gly333Ser) rs138316493

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