ClinVar Miner

List of variants studied for DOORS syndrome

Included ClinVar conditions (5):
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ClinVar version:
Total variants: 42
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HGVS dbSNP gnomAD frequency
NM_001199107.2(TBC1D24):c.1143-6C>T rs73490287 0.02047
NM_001199107.2(TBC1D24):c.1509C>T (p.Ser503=) rs189089167 0.01110
NM_001199107.2(TBC1D24):c.1326C>T (p.Tyr442=) rs184639841 0.00324
NM_001199107.2(TBC1D24):c.1427C>A (p.Ala476Asp) rs202216463 0.00304
NM_001199107.2(TBC1D24):c.1327G>A (p.Glu443Lys) rs141399869 0.00163
NM_001199107.2(TBC1D24):c.878G>A (p.Arg293His) rs199700840 0.00022
NM_001199107.2(TBC1D24):c.217G>A (p.Val73Met) rs370078844 0.00021
NM_001199107.2(TBC1D24):c.871G>A (p.Ala291Thr) rs375307187 0.00011
NM_001199107.2(TBC1D24):c.439G>A (p.Asp147Asn) rs267607103 0.00007
NM_001199107.2(TBC1D24):c.1008del (p.His336fs) rs398122967 0.00005
NM_001199107.2(TBC1D24):c.808C>T (p.Arg270Cys) rs375860324 0.00004
NM_001199107.2(TBC1D24):c.1633A>G (p.Ile545Val) rs773874436 0.00003
NM_001199107.2(TBC1D24):c.724C>T (p.Arg242Cys) rs398122965 0.00003
NM_001199107.2(TBC1D24):c.1393G>A (p.Ala465Thr) rs745535369 0.00002
NM_001199107.2(TBC1D24):c.1544C>T (p.Ala515Val) rs267607105 0.00002
NM_001199107.2(TBC1D24):c.457G>A (p.Glu153Lys) rs376712059 0.00002
NM_001199107.2(TBC1D24):c.845C>G (p.Pro282Arg) rs747538224 0.00002
NM_001199107.2(TBC1D24):c.118C>T (p.Arg40Cys) rs398122966 0.00001
NM_001199107.2(TBC1D24):c.119G>T (p.Arg40Leu) rs760474458 0.00001
NM_001199107.2(TBC1D24):c.533C>T (p.Ser178Leu) rs483352866 0.00001
NM_001199107.2(TBC1D24):c.734T>C (p.Leu245Pro) rs370477379 0.00001
NM_001199107.2(TBC1D24):c.965+2T>C rs755370981 0.00001
NM_001199107.2(TBC1D24):c.-116+125A>C rs2141848023
NM_001199107.2(TBC1D24):c.1142+272T>C rs2141874790
NM_001199107.2(TBC1D24):c.116C>T (p.Ala39Val) rs773916549
NM_001199107.2(TBC1D24):c.1206+5G>A rs398122968
NM_001199107.2(TBC1D24):c.1360_1363dup (p.Pro455fs) rs1292551263
NM_001199107.2(TBC1D24):c.1460dup (p.His487fs) rs797044549
NM_001199107.2(TBC1D24):c.208G>T (p.Asp70Tyr) rs587777147
NM_001199107.2(TBC1D24):c.229ATCGTGGGCAAG[1] (p.77IVGK[1]) rs761918906
NM_001199107.2(TBC1D24):c.313T>C (p.Cys105Arg) rs797044547
NM_001199107.2(TBC1D24):c.328G>A (p.Gly110Ser) rs747821285
NM_001199107.2(TBC1D24):c.404C>T (p.Pro135Leu) rs1057519630
NM_001199107.2(TBC1D24):c.469C>G (p.Arg157Gly)
NM_001199107.2(TBC1D24):c.533C>G (p.Ser178Trp) rs483352866
NM_001199107.2(TBC1D24):c.58C>G (p.Gln20Glu) rs201257588
NM_001199107.2(TBC1D24):c.605C>T (p.Ser202Leu) rs796053400
NM_001199107.2(TBC1D24):c.642_793del (p.Trp215fs) rs2141872119
NM_001199107.2(TBC1D24):c.752del (p.Phe251fs) rs766769998
NM_001199107.2(TBC1D24):c.999G>T (p.Leu333Phe) rs797044548
NM_001695.5(ATP6V1C1):c.865G>A (p.Glu289Lys)
NM_020705.2(TBC1D24):c.[1218G>C];[1270T>C]

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