ClinVar Miner

List of variants in gene combination FAN1, MTMR10 reported by GeneDx

Minimum submission review status: Collection method:
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Gene type:
ClinVar version:
Total variants: 52
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HGVS dbSNP gnomAD frequency
NM_014967.5(FAN1):c.2787+145C>A rs10152143 0.67766
NM_014967.5(FAN1):c.2488+22T>C rs2959037 0.65505
NM_014967.5(FAN1):c.3015T>C (p.His1005=) rs2955795 0.39296
NM_014967.5(FAN1):c.2173-219C>T rs2955776 0.38510
NM_014967.5(FAN1):c.2916+152C>G rs3794596 0.24148
NM_014967.5(FAN1):c.2172+92A>G rs1474382 0.19388
NM_014967.5(FAN1):c.2788-161G>C rs34178381 0.10561
NM_014967.5(FAN1):c.2917-268_2917-261del rs553210682 0.06431
NM_014967.5(FAN1):c.2917-280_2917-271del rs534634675 0.06420
NM_014967.5(FAN1):c.2052+45C>T rs76554225 0.05152
NM_014967.5(FAN1):c.1944-207C>T rs77648093 0.04555
NM_014967.5(FAN1):c.2338-80A>G rs57426776 0.04310
NM_014967.5(FAN1):c.2053-53G>A rs57807297 0.03800
NM_014967.5(FAN1):c.2337+244C>T rs73381362 0.03789
NM_014967.5(FAN1):c.*3+60T>A rs73366503 0.02391
NM_014967.5(FAN1):c.2338-163C>G rs73381363 0.02388
NM_014967.5(FAN1):c.1944-288G>A rs117959814 0.02010
NM_014967.5(FAN1):c.2593-240C>G rs79166131 0.01690
NM_014967.5(FAN1):c.2787+227T>C rs190879074 0.01509
NM_014967.5(FAN1):c.2173-218G>A rs75349552 0.01426
NM_014967.5(FAN1):c.2787+47G>A rs112159557 0.01424
NM_014967.5(FAN1):c.2172+276G>A rs79541084 0.01404
NM_014967.5(FAN1):c.2680C>T (p.Pro894Ser) rs80120912 0.01243
NM_014967.5(FAN1):c.2787+295A>G rs12899814 0.00964
NM_014967.5(FAN1):c.2053-129C>T rs16956376 0.00903
NM_014967.5(FAN1):c.2787+87_2787+88del rs200158383 0.00554
NM_014967.5(FAN1):c.2413G>A (p.Ala805Thr) rs114441778 0.00511
NM_014967.5(FAN1):c.2338-200C>G rs191952332 0.00469
NM_014967.5(FAN1):c.1944-4T>C rs200971774 0.00399
NM_014967.5(FAN1):c.2427G>A (p.Thr809=) rs147978882 0.00258
NM_014967.5(FAN1):c.2071G>C (p.Glu691Gln) rs111476645 0.00137
NM_014967.5(FAN1):c.2875C>T (p.Pro959Ser) rs146600264 0.00023
NM_014967.5(FAN1):c.2218A>G (p.Thr740Ala) rs2062428122 0.00001
NM_014967.5(FAN1):c.*3+209_*3+210del rs11317050
NM_014967.5(FAN1):c.*3+210del rs11317050
NM_014967.5(FAN1):c.1944-64G>C rs10163148
NM_014967.5(FAN1):c.2053-13_2053-11del rs200060110
NM_014967.5(FAN1):c.2129G>A (p.Arg710Gln)
NM_014967.5(FAN1):c.2271G>C (p.Pro757=) rs60719098
NM_014967.5(FAN1):c.2418C>G (p.Asp806Glu) rs143461130
NM_014967.5(FAN1):c.2489-46TG[18] rs61136501
NM_014967.5(FAN1):c.2489-46TG[19] rs61136501
NM_014967.5(FAN1):c.2489-46TG[20] rs61136501
NM_014967.5(FAN1):c.2489-46TG[21] rs61136501
NM_014967.5(FAN1):c.2489-46TG[22] rs61136501
NM_014967.5(FAN1):c.2489-46TG[23] rs61136501
NM_014967.5(FAN1):c.2787+163_2787+167del rs72497432
NM_014967.5(FAN1):c.2787+207_2787+208del rs546821376
NM_014967.5(FAN1):c.2787+250_2787+253del rs538575016
NM_014967.5(FAN1):c.2787+250_2787+258del rs1472128385
NM_014967.5(FAN1):c.2787+265_2787+294dup rs1555402971
NM_014967.5(FAN1):c.2787+275_2787+279del rs554680988

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