ClinVar Miner

List of variants in gene PITPNM3 studied for perceptual disorders

Included ClinVar conditions (765):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 168
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HGVS dbSNP gnomAD frequency
NM_031220.4(PITPNM3):c.2430T>C (p.Asp810=) rs11654099 0.88577
NM_031220.4(PITPNM3):c.*641C>T rs4796331 0.71281
NM_031220.4(PITPNM3):c.*3693A>G rs3169862 0.55730
NM_031220.4(PITPNM3):c.*556G>C rs4796500 0.55212
NM_031220.4(PITPNM3):c.705C>T (p.Thr235=) rs938288 0.50749
NM_031220.4(PITPNM3):c.*2088A>G rs4796329 0.43732
NM_031220.4(PITPNM3):c.*1840C>T rs4796330 0.41874
NM_031220.4(PITPNM3):c.*484T>C rs12449488 0.37101
NM_031220.4(PITPNM3):c.1625-9G>A rs11654175 0.36838
NM_031220.4(PITPNM3):c.238G>A (p.Ala80Thr) rs3809835 0.30670
NM_031220.4(PITPNM3):c.*2981G>A rs3809839 0.27031
NM_031220.4(PITPNM3):c.*3239C>T rs11078630 0.24348
NM_031220.4(PITPNM3):c.*3561G>A rs57360986 0.21950
NM_031220.4(PITPNM3):c.2307-5A>G rs73346359 0.08488
NM_031220.4(PITPNM3):c.49C>T (p.Pro17Ser) rs28493751 0.08290
NM_031220.4(PITPNM3):c.*2203G>A rs28593105 0.07671
NM_031220.4(PITPNM3):c.1206G>A (p.Ser402=) rs7225547 0.06006
NM_031220.4(PITPNM3):c.*1909G>C rs58508424 0.03645
NM_031220.4(PITPNM3):c.477C>T (p.Ser159=) rs34897053 0.02372
NM_031220.4(PITPNM3):c.*1299C>T rs7218551 0.01384
NM_031220.4(PITPNM3):c.901-10G>C rs77580616 0.00927
NM_031220.4(PITPNM3):c.*576T>C rs570375031 0.00891
NM_031220.4(PITPNM3):c.*824G>T rs111943449 0.00887
NM_031220.4(PITPNM3):c.699C>T (p.Val233=) rs149964592 0.00707
NM_031220.4(PITPNM3):c.541G>A (p.Val181Ile) rs61755430 0.00628
NM_031220.4(PITPNM3):c.*3446G>T rs866089694 0.00601
NM_031220.4(PITPNM3):c.*3541C>T rs142047814 0.00511
NM_031220.4(PITPNM3):c.*555C>T rs147071422 0.00494
NM_031220.4(PITPNM3):c.*1617A>G rs191391858 0.00369
NM_031220.4(PITPNM3):c.1477C>T (p.Arg493Trp) rs147943969 0.00314
NM_031220.4(PITPNM3):c.2472G>A (p.Leu824=) rs144737056 0.00305
NM_031220.4(PITPNM3):c.226+9C>G rs145880642 0.00273
NM_031220.4(PITPNM3):c.-24C>T rs572344237 0.00242
NM_031220.4(PITPNM3):c.*1223C>T rs141728004 0.00224
NM_031220.4(PITPNM3):c.1878G>C (p.Gln626His) rs76024428 0.00212
NM_031220.4(PITPNM3):c.*561C>G rs186452214 0.00205
NM_031220.4(PITPNM3):c.*3132T>A rs570730657 0.00197
NM_031220.4(PITPNM3):c.*3253G>C rs563717612 0.00172
NM_031220.4(PITPNM3):c.22+15G>C rs777876563 0.00166
NM_031220.4(PITPNM3):c.330C>T (p.Ile110=) rs141380388 0.00158
NM_031220.4(PITPNM3):c.*2336A>G rs74390995 0.00116
NM_031220.4(PITPNM3):c.*2830G>C rs192300339 0.00115
NM_031220.4(PITPNM3):c.*2957G>A rs72830303 0.00084
NM_031220.4(PITPNM3):c.*3685A>C rs572030994 0.00083
NM_031220.4(PITPNM3):c.2355G>A (p.Pro785=) rs146899730 0.00062
NM_031220.4(PITPNM3):c.216C>T (p.Asp72=) rs61755429 0.00061
NM_031220.4(PITPNM3):c.987G>A (p.Leu329=) rs148451236 0.00061
NM_031220.4(PITPNM3):c.*3390C>T rs552116533 0.00058
NM_031220.4(PITPNM3):c.2107C>T (p.Arg703Trp) rs149585484 0.00058
NM_031220.4(PITPNM3):c.*3509C>T rs188088185 0.00057
NM_031220.4(PITPNM3):c.1128G>A (p.Ala376=) rs146033772 0.00056
NM_031220.4(PITPNM3):c.1671C>T (p.Tyr557=) rs74748737 0.00041
NM_031220.4(PITPNM3):c.*1313G>C rs188929777 0.00039
NM_031220.4(PITPNM3):c.1688C>T (p.Thr563Met) rs139119218 0.00030
NM_031220.4(PITPNM3):c.*2160C>T rs778011901 0.00024
NM_031220.4(PITPNM3):c.1124C>T (p.Pro375Leu) rs138671220 0.00022
NM_031220.4(PITPNM3):c.576G>A (p.Ser192=) rs145362623 0.00021
NM_031220.4(PITPNM3):c.*1095G>A rs779765367 0.00019
NM_031220.4(PITPNM3):c.507C>A (p.Phe169Leu) rs367702668 0.00019
NM_031220.4(PITPNM3):c.*1646G>A rs761623031 0.00017
NM_031220.4(PITPNM3):c.*3449G>C rs57271171 0.00017
NM_031220.4(PITPNM3):c.2036C>T (p.Ser679Phe) rs146074870 0.00016
NM_031220.4(PITPNM3):c.*674G>A rs886053296 0.00013
NM_031220.4(PITPNM3):c.*3342C>T rs746634506 0.00011
NM_031220.4(PITPNM3):c.914C>T (p.Ala305Val) rs145148072 0.00011
NM_031220.4(PITPNM3):c.*2207G>A rs1008761194 0.00009
NM_031220.4(PITPNM3):c.351+15G>A rs549825421 0.00009
NM_031220.4(PITPNM3):c.-40A>C rs886053302 0.00007
NM_031220.4(PITPNM3):c.2746T>G (p.Phe916Val) rs750289060 0.00007
NM_031220.4(PITPNM3):c.287G>A (p.Arg96Gln) rs199749069 0.00007
NM_031220.4(PITPNM3):c.*1106A>G rs886053295 0.00006
NM_031220.4(PITPNM3):c.*2701C>T rs562895550 0.00006
NM_031220.4(PITPNM3):c.*3762C>T rs918411536 0.00006
NM_031220.4(PITPNM3):c.1018C>T (p.Arg340Trp) rs776506570 0.00005
NM_031220.4(PITPNM3):c.243G>A (p.Pro81=) rs773821376 0.00005
NM_031220.4(PITPNM3):c.826A>G (p.Ile276Val) rs949951182 0.00005
NM_031220.4(PITPNM3):c.*3723G>A rs371539500 0.00004
NM_031220.4(PITPNM3):c.-129C>T rs886053303 0.00004
NM_031220.4(PITPNM3):c.1086-5C>T rs775491788 0.00004
NM_031220.4(PITPNM3):c.1527G>A (p.Ser509=) rs758234075 0.00004
NM_031220.4(PITPNM3):c.1609G>A (p.Val537Met) rs754442529 0.00004
NM_031220.4(PITPNM3):c.195C>T (p.Ile65=) rs142749216 0.00004
NM_031220.4(PITPNM3):c.2190G>A (p.Thr730=) rs781691392 0.00004
NM_031220.4(PITPNM3):c.747G>A (p.Lys249=) rs371282530 0.00004
NM_031220.4(PITPNM3):c.853G>A (p.Asp285Asn) rs751707041 0.00004
NM_031220.4(PITPNM3):c.915G>A (p.Ala305=) rs373564103 0.00004
NM_031220.4(PITPNM3):c.1019G>A (p.Arg340Gln) rs144563288 0.00003
NM_031220.4(PITPNM3):c.1608C>T (p.Pro536=) rs186009079 0.00003
NM_031220.4(PITPNM3):c.2595C>G (p.Thr865=) rs1376828420 0.00003
NM_031220.4(PITPNM3):c.456C>A (p.Ala152=) rs761342538 0.00003
NM_031220.4(PITPNM3):c.838G>A (p.Ala280Thr) rs140298487 0.00003
NM_031220.4(PITPNM3):c.*840T>C rs961511171 0.00002
NM_031220.4(PITPNM3):c.1314C>T (p.Asp438=) rs371498505 0.00002
NM_031220.4(PITPNM3):c.1377C>T (p.Ser459=) rs143785279 0.00002
NM_031220.4(PITPNM3):c.1538G>A (p.Arg513His) rs548588951 0.00002
NM_031220.4(PITPNM3):c.16C>T (p.Arg6Cys) rs1471395517 0.00002
NM_031220.4(PITPNM3):c.1899G>A (p.Thr633=) rs370756871 0.00002
NM_031220.4(PITPNM3):c.2045G>T (p.Arg682Leu) rs759141007 0.00002
NM_031220.4(PITPNM3):c.651C>T (p.Ala217=) rs773305845 0.00002
NM_031220.4(PITPNM3):c.950G>A (p.Arg317His) rs757430953 0.00002
NM_031220.4(PITPNM3):c.*1461C>T rs1258478802 0.00001
NM_031220.4(PITPNM3):c.*1545G>A rs565463582 0.00001
NM_031220.4(PITPNM3):c.*1673G>A rs753609983 0.00001
NM_031220.4(PITPNM3):c.*2482C>A rs1055891777 0.00001
NM_031220.4(PITPNM3):c.-92C>T rs961764718 0.00001
NM_031220.4(PITPNM3):c.1854G>A (p.Glu618=) rs886053299 0.00001
NM_031220.4(PITPNM3):c.1942C>T (p.Pro648Ser) rs141159316 0.00001
NM_031220.4(PITPNM3):c.2166G>C (p.Gln722His) rs368515060 0.00001
NM_031220.4(PITPNM3):c.2305C>T (p.Arg769Trp) rs750932326 0.00001
NM_031220.4(PITPNM3):c.2474G>A (p.Arg825His) rs148826628 0.00001
NM_031220.4(PITPNM3):c.2506A>G (p.Ser836Gly) rs1383497573 0.00001
NM_031220.4(PITPNM3):c.2510C>T (p.Ala837Val) rs756226356 0.00001
NM_031220.4(PITPNM3):c.612G>C (p.Glu204Asp) rs766391410 0.00001
NM_031220.4(PITPNM3):c.*102T>A rs1214063181
NM_031220.4(PITPNM3):c.*1386T>C rs1913973057
NM_031220.4(PITPNM3):c.*1482C>A rs372757907
NM_031220.4(PITPNM3):c.*1571T>C rs1913966100
NM_031220.4(PITPNM3):c.*1637G>A rs1913963952
NM_031220.4(PITPNM3):c.*1656G>A rs547660659
NM_031220.4(PITPNM3):c.*1733C>A rs562178969
NM_031220.4(PITPNM3):c.*2061C>T rs4796499
NM_031220.4(PITPNM3):c.*2199G>A rs548870374
NM_031220.4(PITPNM3):c.*2289A>G rs886053292
NM_031220.4(PITPNM3):c.*2302A>C rs56400419
NM_031220.4(PITPNM3):c.*2334G>A rs1597354935
NM_031220.4(PITPNM3):c.*2390G>A rs1913908744
NM_031220.4(PITPNM3):c.*2762G>C rs1221151054
NM_031220.4(PITPNM3):c.*2845A>G rs1006953333
NM_031220.4(PITPNM3):c.*2971G>A rs752958452
NM_031220.4(PITPNM3):c.*299C>A rs886053297
NM_031220.4(PITPNM3):c.*3106T>C rs1913879958
NM_031220.4(PITPNM3):c.*3162A>T rs1913878110
NM_031220.4(PITPNM3):c.*3327G>C rs1913871593
NM_031220.4(PITPNM3):c.*3371C>G rs779802158
NM_031220.4(PITPNM3):c.*3371C>T rs779802158
NM_031220.4(PITPNM3):c.*3448C>G rs377452533
NM_031220.4(PITPNM3):c.*3449G>A rs57271171
NM_031220.4(PITPNM3):c.*3451G>A rs966895099
NM_031220.4(PITPNM3):c.*3452C>G rs57115440
NM_031220.4(PITPNM3):c.*3453G>T rs1372700734
NM_031220.4(PITPNM3):c.*3458G>T rs906119341
NM_031220.4(PITPNM3):c.*3462G>C rs773713375
NM_031220.4(PITPNM3):c.*3706G>C rs886053275
NM_031220.4(PITPNM3):c.*3707G>A rs553844137
NM_031220.4(PITPNM3):c.*3708G>A rs574669515
NM_031220.4(PITPNM3):c.*3734G>A rs145961702
NM_031220.4(PITPNM3):c.*604T>C rs951966240
NM_031220.4(PITPNM3):c.*924G>A rs549677933
NM_031220.4(PITPNM3):c.1048T>G (p.Cys350Gly)
NM_031220.4(PITPNM3):c.1132G>T (p.Gly378Trp) rs974807683
NM_031220.4(PITPNM3):c.1177G>T (p.Asp393Tyr) rs143807935
NM_031220.4(PITPNM3):c.1381C>G (p.Pro461Ala)
NM_031220.4(PITPNM3):c.1524C>G (p.Ala508=) rs1905059038
NM_031220.4(PITPNM3):c.1657_1660dup (p.Tyr554Ter) rs1905007623
NM_031220.4(PITPNM3):c.1773+7C>T rs886053300
NM_031220.4(PITPNM3):c.1997C>T (p.Thr666Ile) rs886053298
NM_031220.4(PITPNM3):c.2307-12C>A rs375605801
NM_031220.4(PITPNM3):c.2619+7G>A
NM_031220.4(PITPNM3):c.2675C>T (p.Ser892Leu)
NM_031220.4(PITPNM3):c.274+14G>T rs886053301
NM_031220.4(PITPNM3):c.2824G>A (p.Glu942Lys) rs1914044665
NM_031220.4(PITPNM3):c.368G>A (p.Arg123His) rs762779113
NM_031220.4(PITPNM3):c.36G>A (p.Pro12=) rs369702538
NM_031220.4(PITPNM3):c.463C>T (p.His155Tyr) rs768310521
NM_031220.4(PITPNM3):c.564T>C (p.Ser188=) rs1905873332
NM_031220.4(PITPNM3):c.79T>G (p.Ser27Ala)
NM_031220.4(PITPNM3):c.825C>T (p.Ala275=) rs1189044377
NM_031220.4(PITPNM3):c.913G>T (p.Ala305Ser) rs549384558

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