ClinVar Miner

List of variants in gene PITRM1 studied for not provided

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Gene type:
ClinVar version:
Total variants: 218
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HGVS dbSNP gnomAD frequency
NM_014889.4(PITRM1):c.2337-16A>G rs3758631 0.67580
NM_014889.4(PITRM1):c.282T>C (p.Thr94=) rs12359035 0.67085
NM_014889.4(PITRM1):c.1190C>T (p.Ala397Val) rs3182535 0.65926
NM_014889.4(PITRM1):c.681T>C (p.Pro227=) rs4609511 0.65284
NM_014889.4(PITRM1):c.267-10_267-9insT rs58131139 0.65279
NM_014889.4(PITRM1):c.982A>G (p.Ile328Val) rs4242746 0.64897
NM_014889.4(PITRM1):c.1136+9A>G rs3814594 0.63383
NM_014889.4(PITRM1):c.3021A>G (p.Arg1007=) rs11414 0.62298
NM_014889.4(PITRM1):c.919-12G>A rs4242747 0.59931
NM_014889.4(PITRM1):c.2298G>A (p.Pro766=) rs3740607 0.49884
NM_014889.4(PITRM1):c.3039G>A (p.Lys1013=) rs10175 0.27339
NM_014889.4(PITRM1):c.506T>C (p.Phe169Ser) rs3814596 0.16962
NM_014889.4(PITRM1):c.1861G>A (p.Val621Ile) rs2388556 0.15208
NM_014889.4(PITRM1):c.1622-15_1622-3del rs60985673 0.13067
NM_014889.4(PITRM1):c.1548G>C (p.Gln516His) rs3765101 0.06218
NM_014889.4(PITRM1):c.2887G>A (p.Val963Ile) rs17849904 0.06023
NM_014889.4(PITRM1):c.327C>T (p.Thr109=) rs1127047 0.05047
NM_014889.4(PITRM1):c.433C>G (p.Leu145Val) rs9423502 0.04986
NM_014889.4(PITRM1):c.1233G>A (p.Thr411=) rs45600442 0.02256
NM_014889.4(PITRM1):c.3049G>A (p.Gly1017Ser) rs35779348 0.01927
NM_014889.4(PITRM1):c.2414G>A (p.Arg805Gln) rs34837384 0.01311
NM_014889.4(PITRM1):c.2627C>T (p.Thr876Met) rs35046873 0.01074
NM_014889.4(PITRM1):c.2906C>T (p.Pro969Leu) rs2279218 0.00966
NM_014889.4(PITRM1):c.1348-17G>A rs114130274 0.00875
NM_014889.4(PITRM1):c.2647C>T (p.Leu883Phe) rs71477812 0.00759
NM_014889.4(PITRM1):c.1721T>C (p.Leu574Ser) rs184954182 0.00595
NM_014889.4(PITRM1):c.2490C>G (p.Ala830=) rs59654932 0.00506
NM_014889.4(PITRM1):c.1064C>G (p.Ser355Cys) rs34854792 0.00459
NM_014889.4(PITRM1):c.791+9T>G rs145778387 0.00452
NM_014889.4(PITRM1):c.1271G>A (p.Arg424Gln) rs115840214 0.00324
NM_014889.4(PITRM1):c.2192C>T (p.Thr731Met) rs79257157 0.00280
NM_014889.4(PITRM1):c.1725C>T (p.Asp575=) rs139545159 0.00245
NM_014889.4(PITRM1):c.1163A>G (p.Tyr388Cys) rs148978046 0.00237
NM_014889.4(PITRM1):c.1533C>T (p.His511=) rs201227300 0.00177
NM_014889.4(PITRM1):c.1225G>T (p.Asp409Tyr) rs138864546 0.00155
NM_014889.4(PITRM1):c.2986G>C (p.Val996Leu) rs190434719 0.00125
NM_014889.4(PITRM1):c.165A>G (p.Thr55=) rs377423925 0.00119
NM_014889.4(PITRM1):c.2223C>T (p.Ser741=) rs191395257 0.00106
NM_014889.4(PITRM1):c.627G>A (p.Ala209=) rs142406142 0.00100
NM_014889.4(PITRM1):c.1824C>T (p.Pro608=) rs370041089 0.00098
NM_014889.4(PITRM1):c.1738+12C>T rs187610356 0.00062
NM_014889.4(PITRM1):c.1118A>T (p.Asp373Val) rs202029537 0.00056
NM_014889.4(PITRM1):c.3006G>A (p.Leu1002=) rs199806295 0.00056
NM_014889.4(PITRM1):c.399G>A (p.Thr133=) rs375556940 0.00055
NM_014889.4(PITRM1):c.1734G>C (p.Leu578=) rs373019822 0.00049
NM_014889.4(PITRM1):c.3048C>T (p.His1016=) rs41316039 0.00038
NM_014889.4(PITRM1):c.2617G>A (p.Val873Ile) rs200737276 0.00035
NM_014889.4(PITRM1):c.2825C>T (p.Ala942Val) rs199538770 0.00033
NM_014889.4(PITRM1):c.267-11T>G rs4242748 0.00020
NM_014889.4(PITRM1):c.3021-18C>T rs564696770 0.00016
NM_014889.4(PITRM1):c.2240G>A (p.Arg747Gln) rs140399473 0.00015
NM_014889.4(PITRM1):c.3016G>C (p.Asp1006His) rs758352717 0.00014
NM_014889.4(PITRM1):c.408C>T (p.Asn136=) rs372307255 0.00014
NM_014889.4(PITRM1):c.2202G>A (p.Gly734=) rs375154884 0.00011
NM_014889.4(PITRM1):c.2827A>G (p.Lys943Glu) rs201649168 0.00011
NM_014889.4(PITRM1):c.2239C>T (p.Arg747Trp) rs745999703 0.00010
NM_014889.4(PITRM1):c.2709C>T (p.Gly903=) rs548760819 0.00010
NM_014889.4(PITRM1):c.2893G>A (p.Ala965Thr) rs534536142 0.00010
NM_014889.4(PITRM1):c.3113G>A (p.Ter1038=) rs374967739 0.00010
NM_014889.4(PITRM1):c.1351A>G (p.Ile451Val) rs368922913 0.00009
NM_014889.4(PITRM1):c.2440C>T (p.Arg814Cys) rs535250510 0.00008
NM_014889.4(PITRM1):c.2585C>T (p.Pro862Leu) rs200076818 0.00008
NM_014889.4(PITRM1):c.581C>T (p.Thr194Met) rs201270190 0.00008
NM_014889.4(PITRM1):c.2423A>G (p.Lys808Arg) rs376250180 0.00007
NM_014889.4(PITRM1):c.1073A>G (p.Asn358Ser) rs373184654 0.00004
NM_014889.4(PITRM1):c.1633C>T (p.Arg545Trp) rs200871543 0.00004
NM_014889.4(PITRM1):c.1871+9C>T rs371275128 0.00004
NM_014889.4(PITRM1):c.2196C>T (p.Pro732=) rs568221543 0.00004
NM_014889.4(PITRM1):c.2337-19T>C rs185270262 0.00004
NM_014889.4(PITRM1):c.519C>T (p.Arg173=) rs35050824 0.00004
NM_014889.4(PITRM1):c.2075G>A (p.Cys692Tyr) rs554941574 0.00003
NM_014889.4(PITRM1):c.1871+7G>T rs373631611 0.00002
NM_014889.4(PITRM1):c.2645+9G>A rs747429923 0.00002
NM_014889.4(PITRM1):c.2920A>G (p.Met974Val) rs777002537 0.00002
NM_014889.4(PITRM1):c.1274T>C (p.Ile425Thr) rs780100902 0.00001
NM_014889.4(PITRM1):c.1461A>G (p.Glu487=) rs982727950 0.00001
NM_014889.4(PITRM1):c.1609A>G (p.Ile537Val) rs772076883 0.00001
NM_014889.4(PITRM1):c.1686T>C (p.Val562=) rs777055355 0.00001
NM_014889.4(PITRM1):c.2945C>T (p.Ser982Leu) rs755277786 0.00001
NM_014889.4(PITRM1):c.3027C>T (p.Leu1009=) rs561866286 0.00001
NM_014889.4(PITRM1):c.435G>T (p.Leu145=) rs754414142 0.00001
NC_000010.10:g.(?_3180223)_(3214971_?)dup
NC_000010.11:g.3137566G>A
NC_000010.11:g.3166389_3166390insAGAGAGCAATGGCACGCTAGGGAAG
NC_000010.11:g.3166389_3166390insAGAGAGGAATGGCACGCTAGGGAAG
NM_014889.4(PITRM1):c.1005G>A (p.Pro335=)
NM_014889.4(PITRM1):c.1007+14G>C
NM_014889.4(PITRM1):c.1008-19C>A
NM_014889.4(PITRM1):c.1008-9dup rs370651887
NM_014889.4(PITRM1):c.1014C>T (p.Thr338=)
NM_014889.4(PITRM1):c.1106G>A (p.Gly369Asp)
NM_014889.4(PITRM1):c.1108C>T (p.Leu370Phe)
NM_014889.4(PITRM1):c.1130A>G (p.Asp377Gly)
NM_014889.4(PITRM1):c.1136+14T>G
NM_014889.4(PITRM1):c.1136+4A>C
NM_014889.4(PITRM1):c.1146C>G (p.Gly382=)
NM_014889.4(PITRM1):c.1173C>T (p.Val391=)
NM_014889.4(PITRM1):c.1207A>T (p.Thr403Ser)
NM_014889.4(PITRM1):c.1209C>A (p.Thr403=)
NM_014889.4(PITRM1):c.1209C>T (p.Thr403=)
NM_014889.4(PITRM1):c.1251-9A>G
NM_014889.4(PITRM1):c.1255G>A (p.Gly419Arg)
NM_014889.4(PITRM1):c.1457A>C (p.Gln486Pro)
NM_014889.4(PITRM1):c.1502C>T (p.Thr501Ile)
NM_014889.4(PITRM1):c.1516C>T (p.Pro506Ser)
NM_014889.4(PITRM1):c.1559C>G (p.Thr520Arg)
NM_014889.4(PITRM1):c.1559C>T (p.Thr520Met)
NM_014889.4(PITRM1):c.1598A>G (p.Asp533Gly)
NM_014889.4(PITRM1):c.160-11T>C
NM_014889.4(PITRM1):c.1615G>C (p.Glu539Gln) rs373717428
NM_014889.4(PITRM1):c.1630T>C (p.Leu544=) rs1588669214
NM_014889.4(PITRM1):c.1634G>A (p.Arg545Gln)
NM_014889.4(PITRM1):c.1661C>A (p.Ala554Asp)
NM_014889.4(PITRM1):c.1676C>T (p.Ala559Val)
NM_014889.4(PITRM1):c.1704C>A (p.Thr568=)
NM_014889.4(PITRM1):c.1738+18G>A
NM_014889.4(PITRM1):c.1738+5C>A
NM_014889.4(PITRM1):c.1765G>C (p.Ala589Pro)
NM_014889.4(PITRM1):c.1783A>G (p.Met595Val)
NM_014889.4(PITRM1):c.1817C>A (p.Thr606Lys)
NM_014889.4(PITRM1):c.1841A>G (p.Tyr614Cys)
NM_014889.4(PITRM1):c.1854C>G (p.Phe618Leu) rs41305673
NM_014889.4(PITRM1):c.1863C>T (p.Val621=) rs1588662897
NM_014889.4(PITRM1):c.1871+13A>G
NM_014889.4(PITRM1):c.1954G>A (p.Val652Met)
NM_014889.4(PITRM1):c.1962C>T (p.Pro654=)
NM_014889.4(PITRM1):c.2118C>T (p.Thr706=)
NM_014889.4(PITRM1):c.2119G>A (p.Ala707Thr)
NM_014889.4(PITRM1):c.2183G>A (p.Arg728Gln)
NM_014889.4(PITRM1):c.2193G>A (p.Thr731=)
NM_014889.4(PITRM1):c.2197G>A (p.Ala733Thr)
NM_014889.4(PITRM1):c.2233C>G (p.Gln745Glu)
NM_014889.4(PITRM1):c.2235+20C>G
NM_014889.4(PITRM1):c.2236G>T (p.Val746Leu)
NM_014889.4(PITRM1):c.223A>C (p.Arg75=)
NM_014889.4(PITRM1):c.2267C>G (p.Thr756Arg)
NM_014889.4(PITRM1):c.2277A>G (p.Lys759=)
NM_014889.4(PITRM1):c.2292G>A (p.Lys764=)
NM_014889.4(PITRM1):c.2299C>T (p.Arg767Cys)
NM_014889.4(PITRM1):c.234C>T (p.His78=) rs769167928
NM_014889.4(PITRM1):c.2357C>T (p.Pro786Leu)
NM_014889.4(PITRM1):c.2410G>A (p.Gly804Ser)
NM_014889.4(PITRM1):c.2423del (p.Lys808fs)
NM_014889.4(PITRM1):c.2442C>T (p.Arg814=)
NM_014889.4(PITRM1):c.2451G>A (p.Thr817=)
NM_014889.4(PITRM1):c.2458-19T>A
NM_014889.4(PITRM1):c.251C>T (p.Thr84Met)
NM_014889.4(PITRM1):c.252G>A (p.Thr84=)
NM_014889.4(PITRM1):c.2533-12C>T
NM_014889.4(PITRM1):c.2533-14A>G
NM_014889.4(PITRM1):c.2533-9G>A
NM_014889.4(PITRM1):c.2595C>T (p.Tyr865=)
NM_014889.4(PITRM1):c.2596G>A (p.Val866Met)
NM_014889.4(PITRM1):c.2599G>A (p.Gly867Ser)
NM_014889.4(PITRM1):c.2604A>C (p.Glu868Asp)
NM_014889.4(PITRM1):c.2612G>A (p.Arg871Gln)
NM_014889.4(PITRM1):c.2622C>T (p.Pro874=)
NM_014889.4(PITRM1):c.2645+17C>T rs200241876
NM_014889.4(PITRM1):c.2646-12T>A
NM_014889.4(PITRM1):c.2660C>T (p.Ala887Val)
NM_014889.4(PITRM1):c.2663G>A (p.Arg888His)
NM_014889.4(PITRM1):c.267-11T>A
NM_014889.4(PITRM1):c.267-9_267-8insCGTCCCTAGCGTGCCATTCCTCTCT
NM_014889.4(PITRM1):c.2688T>C (p.His896=)
NM_014889.4(PITRM1):c.2710G>A (p.Gly904Ser)
NM_014889.4(PITRM1):c.2727C>T (p.Gly909=)
NM_014889.4(PITRM1):c.2769C>T (p.Tyr923=)
NM_014889.4(PITRM1):c.276C>G (p.Phe92Leu)
NM_014889.4(PITRM1):c.2771+19C>G
NM_014889.4(PITRM1):c.2777C>T (p.Pro926Leu) rs757549094
NM_014889.4(PITRM1):c.2818G>A (p.Asp940Asn)
NM_014889.4(PITRM1):c.2841C>T (p.Phe947=)
NM_014889.4(PITRM1):c.2856C>G (p.Ile952Met) rs2279219
NM_014889.4(PITRM1):c.2856C>T (p.Ile952=)
NM_014889.4(PITRM1):c.2859C>T (p.Asp953=)
NM_014889.4(PITRM1):c.2860G>A (p.Glu954Lys)
NM_014889.4(PITRM1):c.2886C>T (p.Thr962=)
NM_014889.4(PITRM1):c.2901C>T (p.Val967=)
NM_014889.4(PITRM1):c.2960_2963del (p.Gln987fs)
NM_014889.4(PITRM1):c.2990G>A (p.Ser997Asn) rs372883237
NM_014889.4(PITRM1):c.2991C>T (p.Ser997=)
NM_014889.4(PITRM1):c.3007G>A (p.Ala1003Thr)
NM_014889.4(PITRM1):c.3020+10G>A
NM_014889.4(PITRM1):c.3020+14G>A
NM_014889.4(PITRM1):c.3020+14G>C
NM_014889.4(PITRM1):c.3045A>G (p.Thr1015=)
NM_014889.4(PITRM1):c.3063C>T (p.Leu1021=)
NM_014889.4(PITRM1):c.3093C>T (p.Asp1031=)
NM_014889.4(PITRM1):c.3110A>G (p.Gln1037Arg) rs6901
NM_014889.4(PITRM1):c.336T>A (p.Cys112Ter)
NM_014889.4(PITRM1):c.353C>T (p.Pro118Leu)
NM_014889.4(PITRM1):c.419-12A>G
NM_014889.4(PITRM1):c.517C>T (p.Arg173Cys)
NM_014889.4(PITRM1):c.533+13T>A
NM_014889.4(PITRM1):c.533+19_533+22del
NM_014889.4(PITRM1):c.533+7C>T
NM_014889.4(PITRM1):c.534-6C>T
NM_014889.4(PITRM1):c.570C>T (p.Ser190=)
NM_014889.4(PITRM1):c.571G>A (p.Asp191Asn)
NM_014889.4(PITRM1):c.582G>A (p.Thr194=)
NM_014889.4(PITRM1):c.630+13_630+16del
NM_014889.4(PITRM1):c.639T>C (p.Asn213=)
NM_014889.4(PITRM1):c.645G>A (p.Arg215=)
NM_014889.4(PITRM1):c.714C>T (p.Asp238=)
NM_014889.4(PITRM1):c.791+12_791+14del
NM_014889.4(PITRM1):c.819A>G (p.Leu273=)
NM_014889.4(PITRM1):c.844G>C (p.Glu282Gln)
NM_014889.4(PITRM1):c.894A>C (p.Pro298=)
NM_014889.4(PITRM1):c.906C>T (p.Pro302=)
NM_014889.4(PITRM1):c.918+15G>A
NM_014889.4(PITRM1):c.918+7G>A
NM_014889.4(PITRM1):c.919-13C>T
NM_014889.4(PITRM1):c.919-17G>A
NM_014889.4(PITRM1):c.919-18C>A rs142560962
NM_014889.4(PITRM1):c.919-18C>T rs142560962
NM_014889.4(PITRM1):c.94C>T (p.Arg32Trp)
NM_014889.4(PITRM1):c.95G>A (p.Arg32Gln)
NM_014889.4(PITRM1):c.987C>T (p.Ser329=)

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