ClinVar Miner

List of variants reported as uncertain significance for Fraser syndrome 3 by Department of Molecular Biology and Genetics, Istanbul Technical University

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Total variants: 15
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HGVS dbSNP gnomAD frequency
NM_007156.5(ZXDA):c.403_404del (p.Cys135fs) rs753063356 0.00023
NM_001364171.2(ODAD1):c.626G>A (p.Ser209Asn) rs367799104 0.00011
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_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_004830.4(MED23):c.3545A>C (p.Glu1182Ala) rs1774628358
NM_014739.3(BCLAF1):c.-114-2_-114-1insC rs1784536674
NM_016098.4(MPC1):c.301C>T (p.His101Tyr) rs200694745
NM_017622.3(BORCS6):c.326G>C (p.Arg109Pro) rs561853521
NM_032608.7(MYO18B):c.6671C>A (p.Ala2224Asp) rs758877751
NM_080722.4(ADAMTS14):c.1318C>T (p.Arg440Cys) rs141442936

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