ClinVar Miner

List of variants in gene LETM1 studied for not provided

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Gene type:
ClinVar version:
Total variants: 223
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HGVS dbSNP gnomAD frequency
NM_012318.3(LETM1):c.1791G>A (p.Lys597=) rs9328763 0.96215
NM_012318.3(LETM1):c.594+13T>C rs73081735 0.05264
NM_012318.3(LETM1):c.595-10C>T rs11933185 0.03269
NM_012318.3(LETM1):c.885A>G (p.Glu295=) rs140729898 0.02219
NM_012318.3(LETM1):c.40C>T (p.Pro14Ser) rs531801469 0.01993
NM_012318.3(LETM1):c.1760A>G (p.Lys587Arg) rs115233072 0.01588
NM_012318.3(LETM1):c.326A>G (p.His109Arg) rs62623389 0.01570
NM_012318.3(LETM1):c.1817A>G (p.Lys606Arg) rs115591912 0.00646
NM_012318.3(LETM1):c.834C>A (p.Ala278=) rs115242208 0.00640
NM_012318.3(LETM1):c.12C>G (p.Ile4Met) rs542455621 0.00631
NM_012318.3(LETM1):c.618C>A (p.Leu206=) rs11933175 0.00559
NM_012318.3(LETM1):c.1995A>C (p.Glu665Asp) rs112919287 0.00479
NM_012318.3(LETM1):c.148G>A (p.Val50Ile) rs116034211 0.00462
NM_012318.3(LETM1):c.2090A>G (p.Lys697Arg) rs141679322 0.00450
NM_012318.3(LETM1):c.244A>G (p.Ile82Val) rs61759826 0.00270
NM_012318.3(LETM1):c.81G>A (p.Arg27=) rs528375844 0.00263
NM_012318.3(LETM1):c.2070+9C>T rs111296871 0.00198
NM_012318.3(LETM1):c.804C>T (p.Ile268=) rs144059275 0.00082
NM_012318.3(LETM1):c.696C>T (p.Phe232=) rs149669402 0.00066
NM_012318.3(LETM1):c.1044T>C (p.Leu348=) rs149533538 0.00062
NM_012318.3(LETM1):c.1911G>A (p.Pro637=) rs371042512 0.00052
NM_012318.3(LETM1):c.1467G>A (p.Ser489=) rs143000748 0.00043
NM_012318.3(LETM1):c.51C>T (p.Leu17=) rs1185311864 0.00035
NM_012318.3(LETM1):c.303G>C (p.Gln101His) rs142447147 0.00031
NM_012318.3(LETM1):c.1667A>G (p.Gln556Arg) rs183323819 0.00023
NM_012318.3(LETM1):c.411C>T (p.Gly137=) rs148115434 0.00023
NM_012318.3(LETM1):c.843C>T (p.Ser281=) rs146247493 0.00023
NM_012318.3(LETM1):c.317G>A (p.Arg106His) rs138076114 0.00022
NM_012318.3(LETM1):c.1521G>A (p.Pro507=) rs146433419 0.00021
NM_012318.3(LETM1):c.486G>A (p.Lys162=) rs147940094 0.00021
NM_012318.3(LETM1):c.53C>G (p.Pro18Arg) rs769399334 0.00021
NM_012318.3(LETM1):c.1200+4C>T rs373020080 0.00015
NM_012318.3(LETM1):c.888_889del (p.Arg299fs) rs775607436 0.00014
NM_012318.3(LETM1):c.1917C>T (p.Asn639=) rs753632622 0.00011
NM_012318.3(LETM1):c.1992C>T (p.Pro664=) rs767887133 0.00010
NM_012318.3(LETM1):c.1476+7G>A rs367656668 0.00009
NM_012318.3(LETM1):c.1290C>T (p.Ala430=) rs199973293 0.00007
NM_012318.3(LETM1):c.82+12G>C rs906775342 0.00007
NM_012318.3(LETM1):c.1938C>T (p.Asn646=) rs138176193 0.00006
NM_012318.3(LETM1):c.41C>T (p.Pro14Leu) rs1048202015 0.00006
NM_012318.3(LETM1):c.919C>T (p.Arg307Cys) rs144099418 0.00006
NM_012318.3(LETM1):c.1359C>T (p.Ala453=) rs141666504 0.00005
NM_012318.3(LETM1):c.1462C>T (p.Arg488Cys) rs141023040 0.00005
NM_012318.3(LETM1):c.1527C>T (p.Thr509=) rs199795241 0.00005
NM_012318.3(LETM1):c.1051C>A (p.Arg351=) rs746663018 0.00004
NM_012318.3(LETM1):c.1052G>A (p.Arg351Gln) rs539912035 0.00004
NM_012318.3(LETM1):c.1476+6C>T rs371412770 0.00004
NM_012318.3(LETM1):c.1492G>A (p.Glu498Lys) rs752894460 0.00004
NM_012318.3(LETM1):c.1635C>T (p.Ile545=) rs374644730 0.00004
NM_012318.3(LETM1):c.1647C>T (p.Ser549=) rs772990450 0.00004
NM_012318.3(LETM1):c.1740C>T (p.Ser580=) rs779132484 0.00004
NM_012318.3(LETM1):c.2139A>G (p.Thr713=) rs755445723 0.00004
NM_012318.3(LETM1):c.855C>T (p.Asp285=) rs141242225 0.00004
NM_012318.3(LETM1):c.888A>G (p.Thr296=) rs776760287 0.00004
NM_012318.3(LETM1):c.948G>A (p.Leu316=) rs370730904 0.00004
NM_012318.3(LETM1):c.1463G>A (p.Arg488His) rs552919478 0.00003
NM_012318.3(LETM1):c.1608+8G>C rs767266602 0.00003
NM_012318.3(LETM1):c.1744-4T>C rs530212467 0.00003
NM_012318.3(LETM1):c.1910C>T (p.Pro637Leu) rs771522729 0.00003
NM_012318.3(LETM1):c.258G>A (p.Ala86=) rs746406341 0.00003
NM_012318.3(LETM1):c.477C>T (p.Asp159=) rs368052273 0.00002
NM_012318.3(LETM1):c.533C>T (p.Ala178Val) rs765611500 0.00002
NM_012318.3(LETM1):c.738+15C>T rs187369080 0.00002
NM_012318.3(LETM1):c.1178G>A (p.Arg393His) rs201808137 0.00001
NM_012318.3(LETM1):c.1200+17C>T rs201713811 0.00001
NM_012318.3(LETM1):c.1332+4C>T rs370119171 0.00001
NM_012318.3(LETM1):c.1333-19G>C rs762995542 0.00001
NM_012318.3(LETM1):c.1350G>A (p.Val450=) rs761201580 0.00001
NM_012318.3(LETM1):c.1407G>A (p.Thr469=) rs779899501 0.00001
NM_012318.3(LETM1):c.1500G>C (p.Val500=) rs767063439 0.00001
NM_012318.3(LETM1):c.1728G>T (p.Val576=) rs746301139 0.00001
NM_012318.3(LETM1):c.1741G>A (p.Glu581Lys) rs757794150 0.00001
NM_012318.3(LETM1):c.2127G>A (p.Glu709=) rs748250467 0.00001
NM_012318.3(LETM1):c.2163G>A (p.Glu721=) rs780777776 0.00001
NM_012318.3(LETM1):c.282T>C (p.Gly94=) rs1451117627 0.00001
NM_012318.3(LETM1):c.289G>A (p.Ala97Thr) rs750399223 0.00001
NM_012318.3(LETM1):c.333G>A (p.Ser111=) rs754403408 0.00001
NM_012318.3(LETM1):c.340G>C (p.Val114Leu) rs758109935 0.00001
NM_012318.3(LETM1):c.354G>A (p.Ser118=) rs759752511 0.00001
NM_012318.3(LETM1):c.441G>C (p.Val147=) rs944925756 0.00001
NM_012318.3(LETM1):c.550C>T (p.Arg184Cys) rs762433668 0.00001
NM_012318.3(LETM1):c.756G>T (p.Lys252Asn) rs774626391 0.00001
NM_012318.3(LETM1):c.83-16C>T rs750528895 0.00001
NM_012318.3(LETM1):c.999G>A (p.Leu333=) rs757215236 0.00001
NM_012318.3(LETM1):c.1003C>T (p.Leu335=) rs2108846315
NM_012318.3(LETM1):c.1009T>A (p.Ser337Thr)
NM_012318.3(LETM1):c.1021AAC[3] (p.Asn342dup) rs2108846290
NM_012318.3(LETM1):c.1029C>T (p.Phe343=) rs779708182
NM_012318.3(LETM1):c.1058G>A (p.Arg353His)
NM_012318.3(LETM1):c.1077C>G (p.Asp359Glu)
NM_012318.3(LETM1):c.1080+13A>G
NM_012318.3(LETM1):c.1080+7C>T
NM_012318.3(LETM1):c.1110G>C (p.Leu370=)
NM_012318.3(LETM1):c.1134G>A (p.Ala378=)
NM_012318.3(LETM1):c.1164C>T (p.Gly388=)
NM_012318.3(LETM1):c.1165G>A (p.Val389Ile)
NM_012318.3(LETM1):c.1173A>G (p.Glu391=)
NM_012318.3(LETM1):c.1182G>A (p.Leu394=)
NM_012318.3(LETM1):c.118A>T (p.Ser40Cys)
NM_012318.3(LETM1):c.1200+9_1200+33del rs546855814
NM_012318.3(LETM1):c.1201-17C>T
NM_012318.3(LETM1):c.1216C>G (p.Leu406Val)
NM_012318.3(LETM1):c.1230C>A (p.Ile410=)
NM_012318.3(LETM1):c.1245C>T (p.Leu415=)
NM_012318.3(LETM1):c.1272G>A (p.Pro424=)
NM_012318.3(LETM1):c.1273G>T (p.Asp425Tyr)
NM_012318.3(LETM1):c.1293C>T (p.Asp431=)
NM_012318.3(LETM1):c.1332+18C>T
NM_012318.3(LETM1):c.1332+5G>A
NM_012318.3(LETM1):c.1332+5G>T
NM_012318.3(LETM1):c.1333-12C>A
NM_012318.3(LETM1):c.1333-1G>C
NM_012318.3(LETM1):c.1333-9C>T
NM_012318.3(LETM1):c.1346A>G (p.Gln449Arg)
NM_012318.3(LETM1):c.1421C>T (p.Ala474Val)
NM_012318.3(LETM1):c.1422G>A (p.Ala474=)
NM_012318.3(LETM1):c.143+16T>G
NM_012318.3(LETM1):c.143+18A>C
NM_012318.3(LETM1):c.1430A>G (p.Gln477Arg)
NM_012318.3(LETM1):c.144-9dup rs775068920
NM_012318.3(LETM1):c.1447A>G (p.Lys483Glu)
NM_012318.3(LETM1):c.1466C>G (p.Ser489Trp) rs151087596
NM_012318.3(LETM1):c.1476+20C>T
NM_012318.3(LETM1):c.1476G>A (p.Ala492=)
NM_012318.3(LETM1):c.1477-15C>T
NM_012318.3(LETM1):c.1496G>A (p.Arg499His) rs28681468
NM_012318.3(LETM1):c.1518G>T (p.Arg506Ser)
NM_012318.3(LETM1):c.1520C>T (p.Pro507Leu)
NM_012318.3(LETM1):c.1528G>A (p.Glu510Lys)
NM_012318.3(LETM1):c.1590G>A (p.Pro530=)
NM_012318.3(LETM1):c.1605G>C (p.Leu535Phe)
NM_012318.3(LETM1):c.1623G>A (p.Thr541=)
NM_012318.3(LETM1):c.165C>T (p.Cys55=)
NM_012318.3(LETM1):c.1723G>T (p.Asp575Tyr) rs2108836399
NM_012318.3(LETM1):c.1744-13A>G
NM_012318.3(LETM1):c.1744-18C>G
NM_012318.3(LETM1):c.1764G>A (p.Lys588=) rs112963620
NM_012318.3(LETM1):c.1772C>A (p.Ser591Ter)
NM_012318.3(LETM1):c.1822T>C (p.Leu608=)
NM_012318.3(LETM1):c.1832G>C (p.Arg611Thr)
NM_012318.3(LETM1):c.1833G>A (p.Arg611=)
NM_012318.3(LETM1):c.1833G>C (p.Arg611Ser)
NM_012318.3(LETM1):c.1834del (p.Val612fs) rs2108834781
NM_012318.3(LETM1):c.1849G>A (p.Gly617Arg)
NM_012318.3(LETM1):c.1858G>A (p.Asp620Asn) rs1179218843
NM_012318.3(LETM1):c.1864T>C (p.Leu622=)
NM_012318.3(LETM1):c.1931+14T>G
NM_012318.3(LETM1):c.1931+19G>A
NM_012318.3(LETM1):c.1931+20C>T
NM_012318.3(LETM1):c.1931+7G>C rs1577308404
NM_012318.3(LETM1):c.1931+9G>A
NM_012318.3(LETM1):c.1932-19G>A
NM_012318.3(LETM1):c.1950C>T (p.Val650=)
NM_012318.3(LETM1):c.1956G>A (p.Glu652=) rs535845172
NM_012318.3(LETM1):c.1962C>A (p.Ile654=)
NM_012318.3(LETM1):c.1974G>A (p.Lys658=)
NM_012318.3(LETM1):c.1987A>G (p.Ile663Val)
NM_012318.3(LETM1):c.2029G>A (p.Glu677Lys) rs2108833876
NM_012318.3(LETM1):c.205C>T (p.His69Tyr)
NM_012318.3(LETM1):c.2065G>A (p.Val689Ile)
NM_012318.3(LETM1):c.2071-15T>C
NM_012318.3(LETM1):c.2071-3T>C rs531216083
NM_012318.3(LETM1):c.210C>T (p.Leu70=)
NM_012318.3(LETM1):c.2117A>G (p.Gln706Arg)
NM_012318.3(LETM1):c.211G>A (p.Gly71Ser)
NM_012318.3(LETM1):c.2202C>A (p.Val734=)
NM_012318.3(LETM1):c.2202C>T (p.Val734=)
NM_012318.3(LETM1):c.2203G>A (p.Ala735Thr)
NM_012318.3(LETM1):c.228G>A (p.Arg76=)
NM_012318.3(LETM1):c.232G>A (p.Glu78Lys)
NM_012318.3(LETM1):c.251C>G (p.Ser84Trp) rs202034038
NM_012318.3(LETM1):c.279G>A (p.Val93=)
NM_012318.3(LETM1):c.304T>G (p.Cys102Gly)
NM_012318.3(LETM1):c.344G>A (p.Arg115His) rs116753949
NM_012318.3(LETM1):c.346G>A (p.Asp116Asn)
NM_012318.3(LETM1):c.351C>T (p.Asp117=)
NM_012318.3(LETM1):c.358G>A (p.Val120Ile) rs2108851753
NM_012318.3(LETM1):c.387C>G (p.Asp129Glu)
NM_012318.3(LETM1):c.392A>G (p.Asn131Ser)
NM_012318.3(LETM1):c.393C>A (p.Asn131Lys) rs145996246
NM_012318.3(LETM1):c.414C>G (p.Gly138=)
NM_012318.3(LETM1):c.415C>G (p.Pro139Ala)
NM_012318.3(LETM1):c.416C>T (p.Pro139Leu)
NM_012318.3(LETM1):c.417G>A (p.Pro139=)
NM_012318.3(LETM1):c.423C>T (p.Tyr141=)
NM_012318.3(LETM1):c.426C>T (p.Ser142=)
NM_012318.3(LETM1):c.427C>A (p.Pro143Thr) rs563564100
NM_012318.3(LETM1):c.432C>G (p.Pro144=) rs773611754
NM_012318.3(LETM1):c.432C>T (p.Pro144=) rs773611754
NM_012318.3(LETM1):c.465G>A (p.Gln155=)
NM_012318.3(LETM1):c.466C>T (p.Arg156Trp)
NM_012318.3(LETM1):c.467G>A (p.Arg156Gln)
NM_012318.3(LETM1):c.506G>A (p.Arg169His)
NM_012318.3(LETM1):c.518T>C (p.Ile173Thr)
NM_012318.3(LETM1):c.520G>T (p.Asp174Tyr)
NM_012318.3(LETM1):c.525C>G (p.Thr175=)
NM_012318.3(LETM1):c.577C>T (p.Arg193Cys)
NM_012318.3(LETM1):c.583G>A (p.Glu195Lys)
NM_012318.3(LETM1):c.588C>T (p.Arg196=)
NM_012318.3(LETM1):c.616C>G (p.Leu206Val) rs2108848624
NM_012318.3(LETM1):c.657G>A (p.Pro219=)
NM_012318.3(LETM1):c.68A>T (p.Tyr23Phe)
NM_012318.3(LETM1):c.691C>G (p.Leu231Val)
NM_012318.3(LETM1):c.711A>G (p.Pro237=) rs2108848546
NM_012318.3(LETM1):c.732A>C (p.Ser244=)
NM_012318.3(LETM1):c.738+5G>A
NM_012318.3(LETM1):c.777G>A (p.Glu259=)
NM_012318.3(LETM1):c.806A>G (p.Glu269Gly) rs2108847688
NM_012318.3(LETM1):c.83-13G>A
NM_012318.3(LETM1):c.83-15dup rs199504881
NM_012318.3(LETM1):c.83-19dup rs145853749
NM_012318.3(LETM1):c.83-3C>T
NM_012318.3(LETM1):c.876+11dup
NM_012318.3(LETM1):c.877-5C>G rs754669789
NM_012318.3(LETM1):c.898C>T (p.Pro300Ser) rs2108846393
NM_012318.3(LETM1):c.8C>T (p.Ser3Phe) rs1015073272
NM_012318.3(LETM1):c.903C>A (p.Ser301Arg)
NM_012318.3(LETM1):c.933A>G (p.Leu311=)
NM_012318.3(LETM1):c.94G>T (p.Asp32Tyr)
NM_012318.3(LETM1):c.958A>G (p.Asn320Asp) rs2108846343
NM_012318.3(LETM1):c.968G>A (p.Arg323Gln)
NM_012318.3(LETM1):c.971C>T (p.Pro324Leu)
NM_012318.3(LETM1):c.972G>A (p.Pro324=)

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