ClinVar Miner

List of variants in gene RFT1 studied for auditory system disease

Included ClinVar conditions (549):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 151
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HGVS dbSNP
NM_052859.4(RFT1):c.*1009G>A rs73840205
NM_052859.4(RFT1):c.*1117G>C
NM_052859.4(RFT1):c.*1124T>A rs554646046
NM_052859.4(RFT1):c.*116C>G
NM_052859.4(RFT1):c.*1271A>C rs549553484
NM_052859.4(RFT1):c.*127G>A rs570767824
NM_052859.4(RFT1):c.*146C>T rs72965388
NM_052859.4(RFT1):c.*1533G>A rs139197209
NM_052859.4(RFT1):c.*153C>T rs886058723
NM_052859.4(RFT1):c.*1693G>A
NM_052859.4(RFT1):c.*1693G>T rs146195364
NM_052859.4(RFT1):c.*1803T>A rs114029473
NM_052859.4(RFT1):c.*1804C>T rs114515847
NM_052859.4(RFT1):c.*182G>C
NM_052859.4(RFT1):c.*184G>C rs548020075
NM_052859.4(RFT1):c.*1900C>T
NM_052859.4(RFT1):c.*1901G>A rs752158709
NM_052859.4(RFT1):c.*1975C>T rs75112182
NM_052859.4(RFT1):c.*2052A>G
NM_052859.4(RFT1):c.*2076C>T
NM_052859.4(RFT1):c.*2161C>T rs180693200
NM_052859.4(RFT1):c.*2165T>C rs141744872
NM_052859.4(RFT1):c.*2187A>G
NM_052859.4(RFT1):c.*2214C>T rs886058719
NM_052859.4(RFT1):c.*2215G>A rs886058718
NM_052859.4(RFT1):c.*2255A>C rs886058717
NM_052859.4(RFT1):c.*2280T>A
NM_052859.4(RFT1):c.*2350C>T rs886058716
NM_052859.4(RFT1):c.*2366T>A rs575340631
NM_052859.4(RFT1):c.*240T>C
NM_052859.4(RFT1):c.*2427G>A rs886058715
NM_052859.4(RFT1):c.*2428G>A
NM_052859.4(RFT1):c.*242T>C rs565490076
NM_052859.4(RFT1):c.*2433C>T rs1078968
NM_052859.4(RFT1):c.*2453T>C
NM_052859.4(RFT1):c.*2457A>G rs560974236
NM_052859.4(RFT1):c.*2646T>C rs891368
NM_052859.4(RFT1):c.*2655T>C rs148022607
NM_052859.4(RFT1):c.*2706C>T rs186393432
NM_052859.4(RFT1):c.*2787G>C rs886058714
NM_052859.4(RFT1):c.*2789C>T rs371144725
NM_052859.4(RFT1):c.*2790G>A
NM_052859.4(RFT1):c.*2820G>A rs143710210
NM_052859.4(RFT1):c.*2840T>A rs9875573
NM_052859.4(RFT1):c.*2887G>A rs2099162
NM_052859.4(RFT1):c.*2950C>T rs2082093
NM_052859.4(RFT1):c.*295C>T
NM_052859.4(RFT1):c.*2991C>T
NM_052859.4(RFT1):c.*2992G>A
NM_052859.4(RFT1):c.*2995C>T rs886058713
NM_052859.4(RFT1):c.*2996G>A
NM_052859.4(RFT1):c.*2997C>G rs886058712
NM_052859.4(RFT1):c.*3068A>C rs571109920
NM_052859.4(RFT1):c.*3093C>G rs886058710
NM_052859.4(RFT1):c.*3093C>T
NM_052859.4(RFT1):c.*3191A>G rs886058709
NM_052859.4(RFT1):c.*3286C>T
NM_052859.4(RFT1):c.*3348A>G
NM_052859.4(RFT1):c.*334A>G rs2564921
NM_052859.4(RFT1):c.*405G>T rs886058722
NM_052859.4(RFT1):c.*423G>A
NM_052859.4(RFT1):c.*441C>A
NM_052859.4(RFT1):c.*450C>T rs2564922
NM_052859.4(RFT1):c.*490T>A rs62255926
NM_052859.4(RFT1):c.*609C>T rs886058721
NM_052859.4(RFT1):c.*622C>G rs7645611
NM_052859.4(RFT1):c.*645C>T rs115646874
NM_052859.4(RFT1):c.*649G>A
NM_052859.4(RFT1):c.*799T>A rs148552528
NM_052859.4(RFT1):c.*84A>T
NM_052859.4(RFT1):c.*861A>G rs886058720
NM_052859.4(RFT1):c.*880C>G
NM_052859.4(RFT1):c.*968A>G
NM_052859.4(RFT1):c.*972A>G
NM_052859.4(RFT1):c.-16G>T rs766018631
NM_052859.4(RFT1):c.-1T>C rs886058729
NM_052859.4(RFT1):c.1017C>T (p.Ala339=)
NM_052859.4(RFT1):c.104T>C (p.Ile35Thr)
NM_052859.4(RFT1):c.1101C>T (p.Ser367=) rs139445704
NM_052859.4(RFT1):c.1102+1G>T rs1559586345
NM_052859.4(RFT1):c.1117C>T (p.Arg373Cys) rs375524916
NM_052859.4(RFT1):c.1118G>A (p.Arg373His) rs77976718
NM_052859.4(RFT1):c.1133A>G (p.Tyr378Cys) rs143232904
NM_052859.4(RFT1):c.1138C>G (p.Leu380Val)
NM_052859.4(RFT1):c.1162A>T (p.Thr388Ser)
NM_052859.4(RFT1):c.1204G>A (p.Asp402Asn) rs760448271
NM_052859.4(RFT1):c.1208+15A>G
NM_052859.4(RFT1):c.1209-6C>T rs543699868
NM_052859.4(RFT1):c.121A>G (p.Lys41Glu) rs886058728
NM_052859.4(RFT1):c.1222A>G (p.Met408Val) rs796053522
NM_052859.4(RFT1):c.1270C>T (p.Arg424Cys) rs138803905
NM_052859.4(RFT1):c.1325G>A (p.Arg442Gln) rs749968109
NM_052859.4(RFT1):c.1331C>T (p.Thr444Met) rs147740901
NM_052859.4(RFT1):c.1332G>A (p.Thr444=) rs139487607
NM_052859.4(RFT1):c.1344C>T (p.Cys448=)
NM_052859.4(RFT1):c.1356C>T (p.Arg452=) rs113829901
NM_052859.4(RFT1):c.1358A>G (p.Tyr453Cys) rs761109723
NM_052859.4(RFT1):c.136G>A (p.Val46Ile) rs141174358
NM_052859.4(RFT1):c.1384C>T (p.Leu462=)
NM_052859.4(RFT1):c.1388C>T (p.Ala463Val) rs763302334
NM_052859.4(RFT1):c.1400T>G (p.Leu467Arg) rs144042263
NM_052859.4(RFT1):c.1407A>G (p.Pro469=)
NM_052859.4(RFT1):c.1455G>A (p.Ser485=) rs767866491
NM_052859.4(RFT1):c.1529G>A (p.Gly510Glu)
NM_052859.4(RFT1):c.1546G>T (p.Ala516Ser)
NM_052859.4(RFT1):c.1623A>G (p.Thr541=) rs11242
NM_052859.4(RFT1):c.199C>T (p.Arg67Cys) rs118203913
NM_052859.4(RFT1):c.201C>T (p.Arg67=)
NM_052859.4(RFT1):c.224C>T (p.Thr75Ile)
NM_052859.4(RFT1):c.23G>A (p.Gly8Asp) rs151322409
NM_052859.4(RFT1):c.267-20A>T rs73840213
NM_052859.4(RFT1):c.303C>G (p.Gly101=) rs148576979
NM_052859.4(RFT1):c.377T>C (p.Phe126Ser)
NM_052859.4(RFT1):c.382C>T (p.Leu128Phe) rs140127085
NM_052859.4(RFT1):c.412C>A (p.Pro138Thr) rs1045604063
NM_052859.4(RFT1):c.436C>T (p.His146Tyr) rs201794647
NM_052859.4(RFT1):c.451_456dup (p.Leu151_Lys152dup)
NM_052859.4(RFT1):c.454A>G (p.Lys152Glu) rs763862849
NM_052859.4(RFT1):c.457-10_457-9del
NM_052859.4(RFT1):c.465A>C (p.Ala155=) rs886058727
NM_052859.4(RFT1):c.477G>C (p.Ser159=)
NM_052859.4(RFT1):c.47C>G (p.Ser16Cys) rs148716754
NM_052859.4(RFT1):c.493G>A (p.Val165Ile) rs571575323
NM_052859.4(RFT1):c.520T>C (p.Leu174=)
NM_052859.4(RFT1):c.541A>G (p.Ile181Val)
NM_052859.4(RFT1):c.553G>A (p.Ala185Thr) rs35221142
NM_052859.4(RFT1):c.558+6A>T rs886058726
NM_052859.4(RFT1):c.559-13dup
NM_052859.4(RFT1):c.56T>C (p.Leu19Pro) rs1575509225
NM_052859.4(RFT1):c.5G>A (p.Gly2Asp) rs185366134
NM_052859.4(RFT1):c.632C>T (p.Thr211Ile) rs148289202
NM_052859.4(RFT1):c.64-14C>T rs78419624
NM_052859.4(RFT1):c.696+11C>T rs886058725
NM_052859.4(RFT1):c.740dup (p.Lys248fs)
NM_052859.4(RFT1):c.749C>T (p.Ser250Phe) rs1575494329
NM_052859.4(RFT1):c.775G>A (p.Gly259Ser) rs1575494302
NM_052859.4(RFT1):c.778G>A (p.Glu260Lys) rs766766673
NM_052859.4(RFT1):c.781C>G (p.Arg261Gly)
NM_052859.4(RFT1):c.801G>T (p.Leu267Phe) rs745687063
NM_052859.4(RFT1):c.821A>G (p.Asp274Gly) rs781066087
NM_052859.4(RFT1):c.826+7T>C rs192264403
NM_052859.4(RFT1):c.827-14T>C rs571722733
NM_052859.4(RFT1):c.827-6T>G rs753486430
NM_052859.4(RFT1):c.831G>A (p.Val277=) rs150391936
NM_052859.4(RFT1):c.887T>A (p.Ile296Lys) rs772820136
NM_052859.4(RFT1):c.887T>G (p.Ile296Arg) rs772820136
NM_052859.4(RFT1):c.892G>A (p.Glu298Lys) rs796053521
NM_052859.4(RFT1):c.902A>G (p.Tyr301Cys) rs913477149
NM_052859.4(RFT1):c.924G>A (p.Leu308=) rs140603849
NM_052859.4(RFT1):c.957G>C (p.Gln319His) rs886058724
NM_052859.4(RFT1):c.978T>C (p.Ala326=)

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