ClinVar Miner

List of variants in gene PITPNM3 reported as uncertain significance for perceptual disorders

Included ClinVar conditions (765):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 96
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HGVS dbSNP gnomAD frequency
NM_031220.4(PITPNM3):c.*3446G>T rs866089694 0.00601
NM_031220.4(PITPNM3):c.1878G>C (p.Gln626His) rs76024428 0.00212
NM_031220.4(PITPNM3):c.22+15G>C rs777876563 0.00166
NM_031220.4(PITPNM3):c.*2957G>A rs72830303 0.00084
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.*1095G>A rs779765367 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.*2207G>A rs1008761194 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.826A>G (p.Ile276Val) rs949951182 0.00005
NM_031220.4(PITPNM3):c.-129C>T rs886053303 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.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.*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.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.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.*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.*604T>C rs951966240
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.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.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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