ClinVar Miner

Variants in gene OTOF with conflicting interpretations "likely benign" and "uncertain significance"

Submission 1 (likely benign) minimum review status: Submission 1 (likely benign) method:
Submission 2 (uncertain significance) minimum review status: Submission 2 (uncertain significance) method:
Gene type:
ClinVar version:
Total variants with conflicting interpretations: 90
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HGVS dbSNP gnomAD frequency
NM_194248.3(OTOF):c.2215-80T>C rs143141993 0.00268
NM_194248.3(OTOF):c.245G>A (p.Arg82His) rs149766574 0.00237
NM_194248.3(OTOF):c.5742G>A (p.Leu1914=) rs141235641 0.00191
NM_194248.3(OTOF):c.2375G>A (p.Arg792Gln) rs144800506 0.00170
NM_194248.3(OTOF):c.339C>T (p.Cys113=) rs139098225 0.00123
NM_194248.3(OTOF):c.2381G>A (p.Arg794His) rs80356592 0.00122
NM_194248.3(OTOF):c.3917A>C (p.Lys1306Thr) rs62641623 0.00103
NM_194248.3(OTOF):c.2123G>A (p.Arg708Gln) rs145019640 0.00098
NM_194248.3(OTOF):c.3966C>G (p.Asp1322Glu) rs80356576 0.00096
NM_194248.3(OTOF):c.1530C>T (p.Ile510=) rs150452778 0.00093
NM_194248.3(OTOF):c.1630C>T (p.Arg544Cys) rs139954767 0.00093
NM_194248.3(OTOF):c.5394C>T (p.Asp1798=) rs111033366 0.00091
NM_194248.3(OTOF):c.3385G>A (p.Val1129Met) rs138249243 0.00089
NM_194248.3(OTOF):c.2908C>T (p.Arg970Cys) rs140613217 0.00081
NM_194248.3(OTOF):c.4463A>T (p.Asp1488Val) rs142284613 0.00081
NM_194248.3(OTOF):c.1910T>C (p.Ile637Thr) rs111033351 0.00076
NM_194248.3(OTOF):c.4483C>A (p.Arg1495=) rs147321712 0.00048
NM_194248.3(OTOF):c.5829C>T (p.Ser1943=) rs151005752 0.00046
NM_194248.3(OTOF):c.3706C>G (p.Arg1236Gly) rs199904558 0.00045
NM_194248.3(OTOF):c.4548C>T (p.Tyr1516=) rs139525746 0.00040
NM_194248.3(OTOF):c.3332C>T (p.Pro1111Leu) rs141972928 0.00038
NM_194248.3(OTOF):c.1640C>T (p.Thr547Met) rs200191563 0.00036
NM_194248.3(OTOF):c.5292-9C>T rs372713647 0.00036
NM_194248.3(OTOF):c.748C>T (p.Arg250Trp) rs373680242 0.00036
NM_194248.3(OTOF):c.2650G>A (p.Ala884Thr) rs144594692 0.00035
NM_194248.3(OTOF):c.898-6C>G rs199687628 0.00035
NM_194248.3(OTOF):c.4023+1G>A rs186810296 0.00031
NM_194248.3(OTOF):c.1135G>A (p.Val379Met) rs141111646 0.00030
NM_194248.3(OTOF):c.3939G>A (p.Ala1313=) rs149566576 0.00027
NM_194248.3(OTOF):c.154G>A (p.Val52Met) rs199992845 0.00026
NM_194248.3(OTOF):c.1960C>T (p.Arg654Trp) rs144259658 0.00026
NM_194248.3(OTOF):c.152C>T (p.Pro51Leu) rs150132765 0.00025
NM_194248.3(OTOF):c.327+5G>T rs370643920 0.00024
NM_194248.3(OTOF):c.327+10C>A rs377042002 0.00021
NM_194248.3(OTOF):c.2498A>T (p.Gln833Leu) rs191568463 0.00019
NM_194248.3(OTOF):c.2848G>A (p.Val950Ile) rs199613764 0.00019
NM_194248.3(OTOF):c.4454C>T (p.Pro1485Leu) rs200699092 0.00018
NM_194248.3(OTOF):c.2590C>T (p.Arg864Cys) rs150070091 0.00016
NM_194248.3(OTOF):c.4363-6G>A rs199567872 0.00015
NM_194248.3(OTOF):c.446C>T (p.Thr149Met) rs140454738 0.00015
NM_194248.3(OTOF):c.2180A>G (p.Asn727Ser) rs200654171 0.00012
NM_194248.3(OTOF):c.2523+5G>A rs201745796 0.00012
NM_194248.3(OTOF):c.377G>A (p.Gly126Asp) rs187033414 0.00011
NM_194248.3(OTOF):c.4951G>A (p.Asp1651Asn) rs139201321 0.00011
NM_194248.3(OTOF):c.1732G>C (p.Val578Leu) rs144907002 0.00010
NM_194248.3(OTOF):c.4642G>A (p.Glu1548Lys) rs146982209 0.00010
NM_194248.3(OTOF):c.337T>C (p.Cys113Arg) rs146615166 0.00009
NM_194248.3(OTOF):c.3746G>A (p.Arg1249Gln) rs200312028 0.00009
NM_194248.3(OTOF):c.4559G>A (p.Arg1520Gln) rs80356601 0.00009
NM_194248.3(OTOF):c.4820G>A (p.Arg1607Gln) rs141800430 0.00009
NM_194248.3(OTOF):c.5623G>A (p.Val1875Met) rs370691004 0.00008
NM_194248.3(OTOF):c.843C>T (p.Asp281=) rs368728682 0.00008
NM_194248.3(OTOF):c.2516C>T (p.Ala839Val) rs201246660 0.00007
NM_194248.3(OTOF):c.2359C>T (p.Arg787Cys) rs574277214 0.00006
NM_194248.3(OTOF):c.2075G>A (p.Arg692Gln) rs147978393 0.00005
NM_194248.3(OTOF):c.2567A>T (p.Asn856Ile) rs752804141 0.00005
NM_194248.3(OTOF):c.3865-12G>A rs374902867 0.00005
NM_194248.3(OTOF):c.302T>C (p.Ile101Thr) rs754508360 0.00004
NM_194248.3(OTOF):c.3637G>A (p.Gly1213Ser) rs140023414 0.00004
NM_194248.3(OTOF):c.3707G>A (p.Arg1236His) rs368633281 0.00004
NM_194248.3(OTOF):c.4375G>A (p.Val1459Met) rs749384668 0.00004
NM_194248.3(OTOF):c.1699G>A (p.Ala567Thr) rs771560305 0.00003
NM_194248.3(OTOF):c.1713G>A (p.Leu571=) rs397517935 0.00003
NM_194248.3(OTOF):c.2147G>A (p.Ser716Asn) rs147657016 0.00003
NM_194248.3(OTOF):c.2465G>A (p.Arg822Gln) rs373681505 0.00003
NM_194248.3(OTOF):c.40C>T (p.Arg14Trp) rs774530840 0.00003
NM_194248.3(OTOF):c.4186G>A (p.Glu1396Lys) rs745399096 0.00003
NM_194248.3(OTOF):c.4783G>A (p.Ala1595Thr) rs772763082 0.00003
NM_194248.3(OTOF):c.4922G>A (p.Arg1641His) rs200283244 0.00003
NM_194248.3(OTOF):c.3226T>C (p.Tyr1076His) rs150782952 0.00002
NM_194248.3(OTOF):c.322A>G (p.Ile108Val) rs727505189 0.00002
NM_194248.3(OTOF):c.55C>T (p.Arg19Trp) rs727504985 0.00002
NM_194248.3(OTOF):c.222C>G (p.Ser74Arg) rs764474318 0.00001
NM_194248.3(OTOF):c.251T>C (p.Val84Ala) rs727505096 0.00001
NM_194248.3(OTOF):c.2690G>A (p.Arg897Gln) rs760896684 0.00001
NM_194248.3(OTOF):c.4474G>A (p.Val1492Met) rs368297003 0.00001
NM_194248.3(OTOF):c.5553G>C (p.Leu1851=) rs747844017 0.00001
NM_194248.3(OTOF):c.5632G>A (p.Val1878Met) rs757360892 0.00001
NM_194248.3(OTOF):c.5712+6C>G rs200435099 0.00001
NM_194248.3(OTOF):c.1553G>T (p.Arg518Leu) rs150090360
NM_194248.3(OTOF):c.2436G>A (p.Leu812=) rs2148051340
NM_194248.3(OTOF):c.2457C>T (p.His819=)
NM_194248.3(OTOF):c.2765G>T (p.Arg922Leu)
NM_194248.3(OTOF):c.3720C>T (p.Ser1240=)
NM_194248.3(OTOF):c.4417G>A (p.Gly1473Ser)
NM_194248.3(OTOF):c.481C>T (p.Arg161Trp) rs377378925
NM_194248.3(OTOF):c.5193-3del
NM_194248.3(OTOF):c.5475C>A (p.Pro1825=) rs760178516
NM_194248.3(OTOF):c.5479C>A (p.Arg1827=) rs142748621
NM_194248.3(OTOF):c.5479C>T (p.Arg1827Trp) rs142748621

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