ClinVar Miner

List of variants in gene FRRS1L reported as uncertain significance for complex neurodevelopmental disorder

Included ClinVar conditions (297):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 192
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HGVS dbSNP gnomAD frequency
NM_014334.4(FRRS1L):c.533T>C (p.Val178Ala) rs148986846 0.00047
NM_014334.4(FRRS1L):c.295G>A (p.Asp99Asn) rs141125474 0.00041
NM_014334.4(FRRS1L):c.137C>T (p.Ala46Val) rs888930181 0.00020
NM_014334.4(FRRS1L):c.589T>G (p.Phe197Val) rs145737336 0.00019
NM_014334.4(FRRS1L):c.740C>T (p.Pro247Leu) rs199731037 0.00011
NM_014334.4(FRRS1L):c.757G>A (p.Val253Ile) rs750592242 0.00010
NM_014334.4(FRRS1L):c.164C>A (p.Ala55Glu) rs746670149 0.00009
NM_014334.4(FRRS1L):c.-33C>G rs879450886 0.00008
NM_014334.3(FRRS1L):c.13A>T (p.Arg5Trp) rs943215649 0.00006
NM_014334.4(FRRS1L):c.232G>A (p.Glu78Lys) rs925308519 0.00006
NM_014334.4(FRRS1L):c.53T>G (p.Leu18Arg) rs1477068520 0.00006
NM_014334.4(FRRS1L):c.688G>T (p.Ala230Ser) rs149801368 0.00005
NM_014334.4(FRRS1L):c.-60C>G rs981467659 0.00004
NM_014334.4(FRRS1L):c.190G>C (p.Gly64Arg) rs936685159 0.00004
NM_014334.4(FRRS1L):c.334C>T (p.Pro112Ser) rs374551544 0.00004
NM_014334.4(FRRS1L):c.46C>T (p.Leu16Phe) rs1199711385 0.00004
NM_014334.4(FRRS1L):c.599A>G (p.Asn200Ser) rs373827794 0.00004
NM_014334.4(FRRS1L):c.-81G>C rs1257708797 0.00003
NM_014334.4(FRRS1L):c.376C>T (p.Arg126Trp) rs200912119 0.00003
NM_014334.4(FRRS1L):c.544G>A (p.Ala182Thr) rs776628840 0.00003
NM_014334.4(FRRS1L):c.602G>A (p.Arg201His) rs574642289 0.00003
NM_014334.4(FRRS1L):c.604G>A (p.Val202Ile) rs753224453 0.00003
NM_014334.4(FRRS1L):c.732A>G (p.Ile244Met) rs369428108 0.00003
NM_014334.4(FRRS1L):c.124C>A (p.Pro42Thr) rs1369673652 0.00002
NM_014334.4(FRRS1L):c.131G>T (p.Gly44Val) rs1486045359 0.00002
NM_014334.4(FRRS1L):c.26C>A (p.Pro9Gln) rs1342340129 0.00002
NM_014334.4(FRRS1L):c.454A>C (p.Lys152Gln) rs763406191 0.00002
NM_014334.4(FRRS1L):c.462G>T (p.Met154Ile) rs750750976 0.00002
NM_014334.4(FRRS1L):c.487G>A (p.Val163Ile) rs374214528 0.00002
NM_014334.4(FRRS1L):c.622C>T (p.Arg208Cys) rs955397173 0.00002
NM_014334.3(FRRS1L):c.25G>A (p.Gly9Arg) rs780536078 0.00001
NM_014334.4(FRRS1L):c.-32G>A rs1425792096 0.00001
NM_014334.4(FRRS1L):c.-65C>T rs1218516340 0.00001
NM_014334.4(FRRS1L):c.109C>T (p.Pro37Ser) rs1361706547 0.00001
NM_014334.4(FRRS1L):c.11C>T (p.Pro4Leu) rs1242524393 0.00001
NM_014334.4(FRRS1L):c.127C>G (p.Arg43Gly) rs1254384132 0.00001
NM_014334.4(FRRS1L):c.130G>A (p.Gly44Arg) rs540314469 0.00001
NM_014334.4(FRRS1L):c.203G>C (p.Gly68Ala) rs1478276048 0.00001
NM_014334.4(FRRS1L):c.250C>T (p.Pro84Ser) rs1831307358 0.00001
NM_014334.4(FRRS1L):c.269A>G (p.Asp90Gly) rs959347221 0.00001
NM_014334.4(FRRS1L):c.344A>G (p.Asn115Ser) rs1001609848 0.00001
NM_014334.4(FRRS1L):c.351G>C (p.Glu117Asp) rs145156906 0.00001
NM_014334.4(FRRS1L):c.362A>G (p.Tyr121Cys) rs766940179 0.00001
NM_014334.4(FRRS1L):c.44T>C (p.Leu15Pro) rs1453473822 0.00001
NM_014334.4(FRRS1L):c.479T>C (p.Met160Thr) rs1456623453 0.00001
NM_014334.4(FRRS1L):c.484T>G (p.Cys162Gly) rs1210638472 0.00001
NM_014334.4(FRRS1L):c.512G>A (p.Arg171His) rs534260927 0.00001
NM_014334.4(FRRS1L):c.521A>G (p.His174Arg) rs1021563907 0.00001
NM_014334.4(FRRS1L):c.601C>T (p.Arg201Cys) rs764520399 0.00001
NM_014334.4(FRRS1L):c.623G>A (p.Arg208His) rs1411339072 0.00001
NM_014334.4(FRRS1L):c.641G>A (p.Arg214Lys) rs766579200 0.00001
NM_014334.4(FRRS1L):c.708G>T (p.Gln236His) rs1381027576 0.00001
NM_014334.4(FRRS1L):c.709G>A (p.Gly237Ser) rs1384271090 0.00001
NM_014334.4(FRRS1L):c.727G>C (p.Asp243His) rs374121699 0.00001
NM_014334.4(FRRS1L):c.754C>T (p.Arg252Cys) rs779958643 0.00001
NM_014334.4(FRRS1L):c.755G>A (p.Arg252His) rs369193985 0.00001
NM_014334.4(FRRS1L):c.785T>G (p.Ile262Ser) rs1831128341 0.00001
NM_014334.4(FRRS1L):c.818C>T (p.Ser273Leu) rs747814314 0.00001
NM_014334.4(FRRS1L):c.830G>A (p.Cys277Tyr) rs1277956295 0.00001
NM_014334.4(FRRS1L):c.860A>G (p.Tyr287Cys) rs769040844 0.00001
NC_000009.12:g.(?_109137435)_(109167311_?)dup
NC_000009.12:g.109167258C>T rs778806715
NC_000009.12:g.109167263C>T rs1435713401
NM_014334.3(FRRS1L):c.28G>T (p.Gly10Cys)
NM_014334.3(FRRS1L):c.2T>A (p.Met1Lys) rs1588106852
NM_014334.3(FRRS1L):c.32C>G (p.Ala11Gly) rs560644274
NM_014334.4(FRRS1L):c.-107C>A
NM_014334.4(FRRS1L):c.-110C>T rs2118524592
NM_014334.4(FRRS1L):c.-15G>A
NM_014334.4(FRRS1L):c.-17G>C rs1831566217
NM_014334.4(FRRS1L):c.-23G>C rs2118524098
NM_014334.4(FRRS1L):c.-2G>A
NM_014334.4(FRRS1L):c.-33_-25del rs1831566345
NM_014334.4(FRRS1L):c.-38C>T rs1554736531
NM_014334.4(FRRS1L):c.-45C>T
NM_014334.4(FRRS1L):c.-47C>T rs1831567095
NM_014334.4(FRRS1L):c.-47_-45CCCGCG[2]GCACCC[1] rs1831566986
NM_014334.4(FRRS1L):c.-51G>A rs1257736975
NM_014334.4(FRRS1L):c.-56_-43delinsGG rs1564238253
NM_014334.4(FRRS1L):c.-57G>A rs1831567424
NM_014334.4(FRRS1L):c.-62C>T rs1032600216
NM_014334.4(FRRS1L):c.-65C>G rs1218516340
NM_014334.4(FRRS1L):c.-73C>G rs1831568253
NM_014334.4(FRRS1L):c.-77G>A rs1831568577
NM_014334.4(FRRS1L):c.-78G>C
NM_014334.4(FRRS1L):c.-81G>A rs1257708797
NM_014334.4(FRRS1L):c.-87G>A rs1564238301
NM_014334.4(FRRS1L):c.-89G>T rs1456606381
NM_014334.4(FRRS1L):c.-95G>A
NM_014334.4(FRRS1L):c.-95G>T rs988175381
NM_014334.4(FRRS1L):c.-96C>G
NM_014334.4(FRRS1L):c.-96C>T rs542485399
NM_014334.4(FRRS1L):c.101G>A (p.Gly34Asp)
NM_014334.4(FRRS1L):c.110C>T (p.Pro37Leu) rs761439057
NM_014334.4(FRRS1L):c.111G>A (p.Pro37=) rs1418441373
NM_014334.4(FRRS1L):c.112G>A (p.Gly38Arg) rs1831562999
NM_014334.4(FRRS1L):c.118C>T (p.Arg40Trp) rs1831562855
NM_014334.4(FRRS1L):c.131G>A (p.Gly44Glu) rs1486045359
NM_014334.4(FRRS1L):c.139C>T (p.Arg47Trp) rs1214270752
NM_014334.4(FRRS1L):c.13C>T (p.Pro5Ser) rs1831565217
NM_014334.4(FRRS1L):c.140G>T (p.Arg47Leu) rs1352910846
NM_014334.4(FRRS1L):c.145G>A (p.Asp49Asn) rs1051565536
NM_014334.4(FRRS1L):c.145G>C (p.Asp49His) rs1051565536
NM_014334.4(FRRS1L):c.152G>T (p.Gly51Val) rs2118523071
NM_014334.4(FRRS1L):c.154G>C (p.Ala52Pro) rs1342676696
NM_014334.4(FRRS1L):c.155C>G (p.Ala52Gly) rs2118523053
NM_014334.4(FRRS1L):c.166G>A (p.Val56Met) rs2118523013
NM_014334.4(FRRS1L):c.167T>C (p.Val56Ala) rs1831561182
NM_014334.4(FRRS1L):c.16C>G (p.Arg6Gly)
NM_014334.4(FRRS1L):c.16C>T (p.Arg6Trp) rs1232685321
NM_014334.4(FRRS1L):c.170C>A (p.Pro57Gln) rs2118522992
NM_014334.4(FRRS1L):c.173G>C (p.Arg58Pro) rs2118522984
NM_014334.4(FRRS1L):c.177C>G (p.His59Gln) rs1564238035
NM_014334.4(FRRS1L):c.178G>C (p.Asp60His) rs772506414
NM_014334.4(FRRS1L):c.191G>A (p.Gly64Asp)
NM_014334.4(FRRS1L):c.206A>G (p.Glu69Gly) rs2118522809
NM_014334.4(FRRS1L):c.210C>A (p.Phe70Leu) rs1564238009
NM_014334.4(FRRS1L):c.220C>A (p.Arg74Ser) rs1831560148
NM_014334.4(FRRS1L):c.230C>G (p.Ser77Trp) rs1172220385
NM_014334.4(FRRS1L):c.231G>A (p.Ser77=) rs746319183
NM_014334.4(FRRS1L):c.236A>C (p.Glu79Ala)
NM_014334.4(FRRS1L):c.23A>T (p.His8Leu) rs1831565018
NM_014334.4(FRRS1L):c.244C>G (p.Pro82Ala)
NM_014334.4(FRRS1L):c.248T>C (p.Phe83Ser) rs1554733324
NM_014334.4(FRRS1L):c.260C>G (p.Pro87Arg) rs768169514
NM_014334.4(FRRS1L):c.265G>C (p.Val89Leu)
NM_014334.4(FRRS1L):c.269A>T (p.Asp90Val) rs959347221
NM_014334.4(FRRS1L):c.308C>T (p.Thr103Ile) rs756282891
NM_014334.4(FRRS1L):c.352A>T (p.Thr118Ser) rs1352155811
NM_014334.4(FRRS1L):c.368T>A (p.Leu123His) rs200018462
NM_014334.4(FRRS1L):c.370A>C (p.Ser124Arg) rs1831273084
NM_014334.4(FRRS1L):c.377G>A (p.Arg126Gln)
NM_014334.4(FRRS1L):c.383T>C (p.Ile128Thr)
NM_014334.4(FRRS1L):c.385G>A (p.Gly129Arg) rs2118482229
NM_014334.4(FRRS1L):c.388G>A (p.Ala130Thr) rs1483638106
NM_014334.4(FRRS1L):c.391G>A (p.Asp131Asn)
NM_014334.4(FRRS1L):c.394G>A (p.Val132Ile) rs748670055
NM_014334.4(FRRS1L):c.398A>G (p.Glu133Gly) rs1831271908
NM_014334.4(FRRS1L):c.405G>C (p.Glu135Asp) rs768643434
NM_014334.4(FRRS1L):c.407T>G (p.Leu136Arg)
NM_014334.4(FRRS1L):c.412G>A (p.Ala138Thr) rs2118482092
NM_014334.4(FRRS1L):c.41C>T (p.Ser14Leu)
NM_014334.4(FRRS1L):c.437T>A (p.Val146Asp) rs1588099321
NM_014334.4(FRRS1L):c.453C>A (p.Asp151Glu)
NM_014334.4(FRRS1L):c.455A>G (p.Lys152Arg) rs1588099304
NM_014334.4(FRRS1L):c.461T>C (p.Met154Thr) rs1831270538
NM_014334.4(FRRS1L):c.463-3T>G
NM_014334.4(FRRS1L):c.463G>A (p.Gly155Ser)
NM_014334.4(FRRS1L):c.463G>C (p.Gly155Arg) rs1831187141
NM_014334.4(FRRS1L):c.475G>A (p.Val159Ile)
NM_014334.4(FRRS1L):c.501T>G (p.Asn167Lys) rs1348709925
NM_014334.4(FRRS1L):c.512G>T (p.Arg171Leu) rs534260927
NM_014334.4(FRRS1L):c.516A>G (p.Ile172Met)
NM_014334.4(FRRS1L):c.547A>G (p.Lys183Glu)
NM_014334.4(FRRS1L):c.550G>A (p.Glu184Lys) rs377165402
NM_014334.4(FRRS1L):c.556C>G (p.Gln186Glu) rs894314771
NM_014334.4(FRRS1L):c.565C>T (p.Pro189Ser) rs548294781
NM_014334.4(FRRS1L):c.56T>A (p.Leu19Gln) rs1831564352
NM_014334.4(FRRS1L):c.58C>A (p.Leu20Met)
NM_014334.4(FRRS1L):c.601C>G (p.Arg201Gly)
NM_014334.4(FRRS1L):c.602G>T (p.Arg201Leu) rs574642289
NM_014334.4(FRRS1L):c.626C>T (p.Pro209Leu) rs2118467636
NM_014334.4(FRRS1L):c.62C>T (p.Thr21Met) rs1831564263
NM_014334.4(FRRS1L):c.637C>T (p.Pro213Ser) rs1026136727
NM_014334.4(FRRS1L):c.64G>A (p.Gly22Arg) rs1831564172
NM_014334.4(FRRS1L):c.64G>C (p.Gly22Arg) rs1831564172
NM_014334.4(FRRS1L):c.650C>G (p.Thr217Arg) rs2118467553
NM_014334.4(FRRS1L):c.658G>C (p.Asp220His)
NM_014334.4(FRRS1L):c.689C>T (p.Ala230Val) rs2118467378
NM_014334.4(FRRS1L):c.708G>A (p.Gln236=) rs1381027576
NM_014334.4(FRRS1L):c.710-21_710-20delinsCA
NM_014334.4(FRRS1L):c.713C>G (p.Ser238Cys) rs2118459558
NM_014334.4(FRRS1L):c.716T>G (p.Ile239Ser) rs1251840318
NM_014334.4(FRRS1L):c.71C>T (p.Ala24Val)
NM_014334.4(FRRS1L):c.722G>T (p.Arg241Leu)
NM_014334.4(FRRS1L):c.725A>G (p.His242Arg)
NM_014334.4(FRRS1L):c.73G>A (p.Ala25Thr) rs1831563878
NM_014334.4(FRRS1L):c.743C>T (p.Pro248Leu) rs759702689
NM_014334.4(FRRS1L):c.76T>C (p.Cys26Arg) rs1831563850
NM_014334.4(FRRS1L):c.774G>C (p.Lys258Asn) rs1564227702
NM_014334.4(FRRS1L):c.784A>G (p.Ile262Val) rs201416713
NM_014334.4(FRRS1L):c.792_793delinsAA (p.Met264_Pro265delinsIleThr) rs2118459182
NM_014334.4(FRRS1L):c.794C>T (p.Pro265Leu) rs1018262344
NM_014334.4(FRRS1L):c.802G>A (p.Ala268Thr) rs2118459152
NM_014334.4(FRRS1L):c.806A>G (p.Tyr269Cys)
NM_014334.4(FRRS1L):c.851T>G (p.Leu284Arg) rs2118458993
NM_014334.4(FRRS1L):c.861C>G (p.Tyr287Ter)
NM_014334.4(FRRS1L):c.862C>G (p.Leu288Val) rs1554732084
NM_014334.4(FRRS1L):c.92C>T (p.Ala31Val)
NM_014334.4(FRRS1L):c.94G>A (p.Asp32Asn)
NM_014334.4(FRRS1L):c.97G>A (p.Asp33Asn) rs1831563459
NM_014334.4(FRRS1L):c.97G>T (p.Asp33Tyr) rs1831563459

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