ClinVar Miner

List of variants reported as uncertain significance by Department of Molecular Biology and Genetics, Istanbul Technical University

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Total variants: 29
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HGVS dbSNP gnomAD frequency
NM_024605.4(ARHGAP10):c.665A>G (p.Asn222Ser) rs145720035 0.00031
NM_007156.5(ZXDA):c.403_404del (p.Cys135fs) rs753063356 0.00023
NM_001009931.3(HRNR):c.3041A>G (p.His1014Arg) rs141450816 0.00015
NM_001364171.2(ODAD1):c.626G>A (p.Ser209Asn) rs367799104 0.00011
NM_001197184.3(GPR33):c.845T>C (p.Ile282Thr) rs572928609 0.00004
NM_000264.5(PTCH1):c.3641C>T (p.Thr1214Met) rs200029534 0.00003
NM_024792.3(TLCD3A):c.263C>T (p.Ser88Leu) rs756022306 0.00002
NM_032881.3(LSM10):c.112G>A (p.Val38Met) rs374549440 0.00002
NM_000202.8(IDS):c.1285G>A (p.Val429Ile) rs781916566 0.00001
NM_001013437.2(SEH1L):c.550G>A (p.Val184Ile) rs374718956 0.00001
NM_001014283.2(DCUN1D2):c.38G>A (p.Arg13His) rs761173109 0.00001
NM_014336.5(AIPL1):c.773G>A (p.Arg258Gln) rs751881283 0.00001
NM_016194.4(GNB5):c.391G>A (p.Val131Met) rs1253307264 0.00001
NM_000049.4(ASPA):c.806C>T (p.Thr269Met) rs773849106
NM_001163809.2(WDR81):c.682C>T (p.Pro228Ser) rs560545893
NM_001280561.2(TMEM249):c.98C>T (p.Ala33Val) rs370391854
NM_001367607.2(ANKRD30B):c.1938del (p.Asp646fs) rs1598636685
NM_004830.4(MED23):c.3545A>C (p.Glu1182Ala) rs1774628358
NM_014739.3(BCLAF1):c.-114-2_-114-1insC rs1784536674
NM_014739.3(BCLAF1):c.-114-2_-114-1insTCGGCGTGTC rs1784536674
NM_014911.5(AAK1):c.2591C>A (p.Ser864Tyr) rs761855107
NM_016098.4(MPC1):c.301C>T (p.His101Tyr) rs200694745
NM_016516.3(VPS54):c.501G>C (p.Met167Ile) rs1575966808
NM_017622.3(BORCS6):c.326G>C (p.Arg109Pro) rs561853521
NM_032147.5(USP44):c.873_886delinsT (p.Leu291fs) rs2077088044
NM_032608.7(MYO18B):c.6671C>A (p.Ala2224Asp) rs758877751
NM_080722.4(ADAMTS14):c.1318C>T (p.Arg440Cys) rs141442936
NM_178857.6(RP1L1):c.3971_3972insGGACTAAAGTAATAGAAGGGCTGCAAGAAGAGAGGGTGCAGTTAGAGG (p.Glu1324_Thr1325insAspTer) rs775016366
NM_207361.6(FREM2):c.7663G>T (p.Val2555Leu) rs200997496

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