ClinVar Miner

List of variants studied for RFT1-congenital disorder of glycosylation by Illumina Laboratory Services, Illumina

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ClinVar version:
Total variants: 120
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HGVS dbSNP gnomAD frequency
NM_052859.4(RFT1):c.*2887G>A rs2099162 0.65392
NM_052859.4(RFT1):c.*450C>T rs2564922 0.63746
NM_052859.4(RFT1):c.*334A>G rs2564921 0.47829
NM_052859.4(RFT1):c.1623A>G (p.Thr541=) rs11242 0.47740
NM_052859.4(RFT1):c.*2646T>C rs891368 0.47736
NM_052859.4(RFT1):c.*2433C>T rs1078968 0.47710
NM_052859.4(RFT1):c.*2950C>T rs2082093 0.47683
NM_052859.4(RFT1):c.*490T>A rs62255926 0.21145
NM_052859.4(RFT1):c.*2840T>A rs9875573 0.16647
NM_052859.4(RFT1):c.*622C>G rs7645611 0.15942
NM_052859.4(RFT1):c.553G>A (p.Ala185Thr) rs35221142 0.04860
NM_052859.4(RFT1):c.*146C>T rs72965388 0.03697
NM_052859.4(RFT1):c.*1803T>A rs114029473 0.03680
NM_052859.4(RFT1):c.*1804C>T rs114515847 0.03678
NM_052859.4(RFT1):c.*1975C>T rs75112182 0.02786
NM_052859.4(RFT1):c.*1009G>A rs73840205 0.01686
NM_052859.4(RFT1):c.64-14C>T rs78419624 0.01456
NM_052859.4(RFT1):c.*799T>A rs148552528 0.00885
NM_052859.4(RFT1):c.*1533G>A rs139197209 0.00724
NM_052859.4(RFT1):c.*2655T>C rs148022607 0.00723
NM_052859.4(RFT1):c.*2165T>C rs141744872 0.00407
NM_052859.4(RFT1):c.*2706C>T rs186393432 0.00407
NM_052859.4(RFT1):c.*2820G>A rs143710210 0.00369
NM_052859.4(RFT1):c.5G>A (p.Gly2Asp) rs185366134 0.00187
NM_052859.4(RFT1):c.*645C>T rs115646874 0.00126
NM_052859.4(RFT1):c.303C>G (p.Gly101=) rs148576979 0.00108
NM_052859.4(RFT1):c.826+7T>C rs192264403 0.00103
NM_052859.4(RFT1):c.*2366T>A rs575340631 0.00063
NM_052859.4(RFT1):c.47C>G (p.Ser16Cys) rs148716754 0.00058
NM_052859.4(RFT1):c.520T>C (p.Leu174=) rs149266076 0.00048
NM_052859.4(RFT1):c.1133A>G (p.Tyr378Cys) rs143232904 0.00046
NM_052859.4(RFT1):c.1331C>T (p.Thr444Met) rs147740901 0.00039
NM_052859.4(RFT1):c.436C>T (p.His146Tyr) rs201794647 0.00036
NM_052859.4(RFT1):c.*3068A>C rs571109920 0.00034
NM_052859.4(RFT1):c.1356C>T (p.Arg452=) rs113829901 0.00034
NM_052859.4(RFT1):c.*2457A>G rs560974236 0.00028
NM_052859.4(RFT1):c.*2790G>A rs866438979 0.00026
NM_052859.4(RFT1):c.*127G>A rs570767824 0.00023
NM_052859.4(RFT1):c.*2789C>T rs371144725 0.00021
NM_052859.4(RFT1):c.831G>A (p.Val277=) rs150391936 0.00021
NM_052859.4(RFT1):c.632C>T (p.Thr211Ile) rs148289202 0.00020
NM_052859.4(RFT1):c.*3093C>G rs886058710 0.00019
NM_052859.4(RFT1):c.*880C>G rs557106378 0.00019
NM_052859.4(RFT1):c.1529G>A (p.Gly510Glu) rs142016662 0.00018
NM_052859.4(RFT1):c.*1124T>A rs554646046 0.00016
NM_052859.4(RFT1):c.*3286C>T rs766245126 0.00015
NM_052859.4(RFT1):c.1101C>T (p.Ser367=) rs139445704 0.00015
NM_052859.4(RFT1):c.136G>A (p.Val46Ile) rs141174358 0.00014
NM_052859.4(RFT1):c.*242T>C rs565490076 0.00013
NM_052859.4(RFT1):c.104T>C (p.Ile35Thr) rs146354877 0.00013
NM_052859.4(RFT1):c.978T>C (p.Ala326=) rs372101755 0.00011
NM_052859.4(RFT1):c.*1901G>A rs752158709 0.00010
NM_052859.4(RFT1):c.827-14T>C rs571722733 0.00010
NM_052859.4(RFT1):c.*2161C>T rs180693200 0.00009
NM_052859.4(RFT1):c.*2453T>C rs755371328 0.00009
NM_052859.4(RFT1):c.*649G>A rs915542340 0.00009
NM_052859.4(RFT1):c.924G>A (p.Leu308=) rs140603849 0.00009
NM_052859.4(RFT1):c.1388C>T (p.Ala463Val) rs763302334 0.00008
NM_052859.4(RFT1):c.*2991C>T rs891624907 0.00007
NM_052859.4(RFT1):c.*2052A>G rs762188099 0.00006
NM_052859.4(RFT1):c.1117C>T (p.Arg373Cys) rs375524916 0.00006
NM_052859.4(RFT1):c.*2280T>A rs190988002 0.00005
NM_052859.4(RFT1):c.*2995C>T rs886058713 0.00004
NM_052859.4(RFT1):c.1208+15A>G rs1448297165 0.00004
NM_052859.4(RFT1):c.1344C>T (p.Cys448=) rs369135875 0.00004
NM_052859.4(RFT1):c.*2214C>T rs886058719 0.00003
NM_052859.4(RFT1):c.*2215G>A rs886058718 0.00003
NM_052859.4(RFT1):c.*2996G>A rs1223140817 0.00003
NM_052859.4(RFT1):c.*84A>T rs553703050 0.00003
NM_052859.4(RFT1):c.-1T>C rs886058729 0.00003
NM_052859.4(RFT1):c.121A>G (p.Lys41Glu) rs886058728 0.00003
NM_052859.4(RFT1):c.23G>A (p.Gly8Asp) rs151322409 0.00003
NM_052859.4(RFT1):c.778G>A (p.Glu260Lys) rs766766673 0.00003
NM_052859.4(RFT1):c.*972A>G rs1442056912 0.00002
NM_052859.4(RFT1):c.801G>T (p.Leu267Phe) rs745687063 0.00002
NM_052859.4(RFT1):c.*1900C>T rs202235284 0.00001
NM_052859.4(RFT1):c.*240T>C rs534506262 0.00001
NM_052859.4(RFT1):c.*3348A>G rs1383425042 0.00001
NM_052859.4(RFT1):c.*968A>G rs1159558402 0.00001
NM_052859.4(RFT1):c.1204G>A (p.Asp402Asn) rs760448271 0.00001
NM_052859.4(RFT1):c.1358A>G (p.Tyr453Cys) rs761109723 0.00001
NM_052859.4(RFT1):c.201C>T (p.Arg67=) rs954135080 0.00001
NM_052859.4(RFT1):c.558+6A>T rs886058726 0.00001
NM_052859.4(RFT1):c.*1117G>C rs1700966613
NM_052859.4(RFT1):c.*116C>G rs1474404507
NM_052859.4(RFT1):c.*1271A>C rs549553484
NM_052859.4(RFT1):c.*153C>T rs886058723
NM_052859.4(RFT1):c.*1693G>A rs146195364
NM_052859.4(RFT1):c.*1693G>T rs146195364
NM_052859.4(RFT1):c.*182G>C rs550906487
NM_052859.4(RFT1):c.*184G>C rs548020075
NM_052859.4(RFT1):c.*2076C>T rs138775144
NM_052859.4(RFT1):c.*2187A>G rs1249353870
NM_052859.4(RFT1):c.*2255A>C rs886058717
NM_052859.4(RFT1):c.*2350C>T rs886058716
NM_052859.4(RFT1):c.*2427G>A rs886058715
NM_052859.4(RFT1):c.*2428G>A rs1036043688
NM_052859.4(RFT1):c.*2787G>C rs886058714
NM_052859.4(RFT1):c.*295C>T rs1050584536
NM_052859.4(RFT1):c.*2992G>A rs1390396374
NM_052859.4(RFT1):c.*2997C>G rs886058712
NM_052859.4(RFT1):c.*3093C>T rs886058710
NM_052859.4(RFT1):c.*3191A>G rs886058709
NM_052859.4(RFT1):c.*405G>T rs886058722
NM_052859.4(RFT1):c.*423G>A rs1476531096
NM_052859.4(RFT1):c.*441C>A rs1700985095
NM_052859.4(RFT1):c.*609C>T rs886058721
NM_052859.4(RFT1):c.*861A>G rs886058720
NM_052859.4(RFT1):c.-16G>T rs766018631
NM_052859.4(RFT1):c.1102+1G>T rs1559586345
NM_052859.4(RFT1):c.1138C>G (p.Leu380Val) rs575508213
NM_052859.4(RFT1):c.1162A>T (p.Thr388Ser) rs1701247296
NM_052859.4(RFT1):c.224C>T (p.Thr75Ile) rs1702032211
NM_052859.4(RFT1):c.377T>C (p.Phe126Ser) rs1701996247
NM_052859.4(RFT1):c.465A>C (p.Ala155=) rs886058727
NM_052859.4(RFT1):c.477G>C (p.Ser159=) rs750521781
NM_052859.4(RFT1):c.56T>C (p.Leu19Pro) rs1575509225
NM_052859.4(RFT1):c.696+11C>T rs886058725
NM_052859.4(RFT1):c.827-6T>G rs753486430
NM_052859.4(RFT1):c.957G>C (p.Gln319His) rs886058724

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