ClinVar Miner

List of variants in gene AHI1 reported as uncertain significance for not provided

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Gene type:
ClinVar version:
Total variants: 87
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HGVS dbSNP gnomAD frequency
NM_001134831.2(AHI1):c.-140+1G>T rs145372075 0.00258
NM_001134831.2(AHI1):c.2714G>C (p.Cys905Ser) rs199879855 0.00144
NM_001134831.2(AHI1):c.986G>T (p.Arg329Leu) rs139944375 0.00111
NM_001134831.2(AHI1):c.3109+6766A>G rs201074308 0.00078
NM_001134831.2(AHI1):c.1013T>G (p.Leu338Trp) rs201790260 0.00033
NM_001134831.2(AHI1):c.1829G>A (p.Arg610Gln) rs374009466 0.00032
NM_001134831.2(AHI1):c.2831A>G (p.Gln944Arg) rs142704960 0.00032
NM_001134831.2(AHI1):c.3329-7A>G rs370808684 0.00031
NM_001134831.2(AHI1):c.3418C>T (p.Pro1140Ser) rs201148693 0.00031
NM_001134831.2(AHI1):c.827C>G (p.Ser276Cys) rs190854744 0.00028
NM_001134831.2(AHI1):c.221T>A (p.Ile74Asn) rs370059449 0.00021
NM_001134831.2(AHI1):c.2548A>G (p.Thr850Ala) rs779509262 0.00017
NM_001134831.2(AHI1):c.1033T>A (p.Leu345Met) rs200927282 0.00016
NM_001134831.2(AHI1):c.3223G>A (p.Gly1075Arg) rs750115460 0.00016
NM_001134831.2(AHI1):c.1415G>A (p.Arg472Gln) rs770605375 0.00014
NM_001134831.2(AHI1):c.1454A>G (p.Asn485Ser) rs375425462 0.00013
NM_001134831.2(AHI1):c.2808A>G (p.Thr936=) rs373772212 0.00013
NM_001134831.2(AHI1):c.3196C>T (p.Arg1066Ter) rs780163791 0.00013
NM_001134831.2(AHI1):c.1157G>A (p.Arg386Gln) rs371243793 0.00012
NM_001134831.2(AHI1):c.136-2A>G rs776579906 0.00011
NM_001134831.2(AHI1):c.2873A>G (p.Gln958Arg) rs201771478 0.00009
NM_001134831.2(AHI1):c.653A>G (p.Tyr218Cys) rs183936286 0.00009
NM_001134831.2(AHI1):c.1694G>A (p.Arg565His) rs372894716 0.00007
NM_001134831.2(AHI1):c.1131A>G (p.Gln377=) rs142518256 0.00006
NM_001134831.2(AHI1):c.1680A>G (p.Pro560=) rs200949030 0.00006
NM_001134831.2(AHI1):c.2794C>T (p.Arg932Cys) rs370101143 0.00006
NM_001134831.2(AHI1):c.73G>A (p.Asp25Asn) rs201590073 0.00006
NM_001134831.2(AHI1):c.74A>G (p.Asp25Gly) rs778792339 0.00006
NM_001134831.2(AHI1):c.493G>A (p.Val165Ile) rs755936005 0.00005
NM_001134831.2(AHI1):c.2407A>G (p.Ile803Val) rs763696602 0.00004
NM_001134831.2(AHI1):c.2672G>A (p.Arg891Gln) rs200816459 0.00004
NM_001134831.2(AHI1):c.83G>A (p.Arg28His) rs36115433 0.00004
NM_001134831.2(AHI1):c.2294C>T (p.Thr765Ile) rs200017073 0.00003
NM_001134831.2(AHI1):c.2660A>G (p.Lys887Arg) rs200355875 0.00003
NM_001134831.2(AHI1):c.3160C>G (p.Pro1054Ala) rs201691998 0.00003
NM_001134831.2(AHI1):c.3329C>T (p.Thr1110Ile) rs891027780 0.00003
NM_001134831.2(AHI1):c.1507A>G (p.Thr503Ala) rs946149286 0.00002
NM_001134831.2(AHI1):c.170A>G (p.Lys57Arg) rs762906949 0.00002
NM_001134831.2(AHI1):c.1891C>T (p.Arg631Trp) rs748010693 0.00002
NM_001134831.2(AHI1):c.3245T>G (p.Phe1082Cys) rs763991049 0.00002
NM_001134831.2(AHI1):c.1625G>C (p.Cys542Ser) rs768523364 0.00001
NM_001134831.2(AHI1):c.1693C>T (p.Arg565Cys) rs763970632 0.00001
NM_001134831.2(AHI1):c.2266+3A>G rs1220929193 0.00001
NM_001134831.2(AHI1):c.2492+3A>G rs951268770 0.00001
NM_001134831.2(AHI1):c.2504G>A (p.Arg835Lys) rs767879919 0.00001
NM_001134831.2(AHI1):c.2580T>A (p.Ala860=) rs1185759126 0.00001
NM_001134831.2(AHI1):c.2638A>G (p.Met880Val) rs759069413 0.00001
NM_001134831.2(AHI1):c.2988+6T>C rs751303913 0.00001
NM_001134831.2(AHI1):c.3159A>T (p.Ala1053=) rs143485622 0.00001
NM_001134831.2(AHI1):c.3165+1G>A rs1448108151 0.00001
NM_001134831.2(AHI1):c.331C>T (p.Pro111Ser) rs776053386 0.00001
NM_001134831.2(AHI1):c.3583A>G (p.Ile1195Val) rs776098993 0.00001
NM_001134831.2(AHI1):c.750-34T>C rs765781545 0.00001
NM_001134831.2(AHI1):c.878T>C (p.Met293Thr) rs759553258 0.00001
GRCh37/hg19 6q23.3(chr6:135710490-135740494)x1
GRCh37/hg19 6q23.3(chr6:135710693-135730886)x1
GRCh37/hg19 6q23.3(chr6:135711267-135735779)x1
GRCh37/hg19 6q23.3(chr6:135711485-135735779)x1
GRCh37/hg19 6q23.3(chr6:135780189-135868217)x1
GRCh37/hg19 6q23.3(chr6:135811334-135898414)x3
NM_001134831.2(AHI1):c.113T>C (p.Val38Ala)
NM_001134831.2(AHI1):c.1522C>G (p.Pro508Ala) rs2128059018
NM_001134831.2(AHI1):c.1531G>A (p.Val511Ile)
NM_001134831.2(AHI1):c.153C>G (p.Ser51Arg) rs1790994808
NM_001134831.2(AHI1):c.1803C>A (p.His601Gln) rs375537062
NM_001134831.2(AHI1):c.1865G>A (p.Arg622Lys) rs777497854
NM_001134831.2(AHI1):c.1915T>C (p.Tyr639His) rs974371363
NM_001134831.2(AHI1):c.2012C>T (p.Thr671Ile) rs772989270
NM_001134831.2(AHI1):c.2276T>C (p.Met759Thr) rs1562754136
NM_001134831.2(AHI1):c.2282C>T (p.Ser761Leu) rs794727174
NM_001134831.2(AHI1):c.2369_2372del (p.Asn790fs) rs1562753388
NM_001134831.2(AHI1):c.2571T>G (p.Phe857Leu)
NM_001134831.2(AHI1):c.2591A>T (p.Asp864Val)
NM_001134831.2(AHI1):c.2944A>G (p.Arg982Gly) rs1554326426
NM_001134831.2(AHI1):c.2961+7_2961+21delinsGACTTTTTTAAAGTTTTAAA rs786200964
NM_001134831.2(AHI1):c.3178T>G (p.Tyr1060Asp)
NM_001134831.2(AHI1):c.3188C>T (p.Thr1063Ile)
NM_001134831.2(AHI1):c.3435_3438del (p.Asn1146fs) rs1562458813
NM_001134831.2(AHI1):c.3453G>C (p.Gln1151His) rs765545542
NM_001134831.2(AHI1):c.428C>T (p.Pro143Leu) rs192524061
NM_001134831.2(AHI1):c.44G>A (p.Arg15His) rs760220297
NM_001134831.2(AHI1):c.542A>C (p.Asp181Ala)
NM_001134831.2(AHI1):c.569A>G (p.Gln190Arg)
NM_001134831.2(AHI1):c.679G>A (p.Asp227Asn) rs886043592
NM_001134831.2(AHI1):c.712A>G (p.Lys238Glu) rs748182443
NM_001134831.2(AHI1):c.931+5G>A rs1216222889
NM_001134831.2(AHI1):c.983G>T (p.Ser328Ile) rs777420094

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