ClinVar Miner

List of variants in gene PITPNM3 reported as benign for perceptual disorders

Included ClinVar conditions (765):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 57
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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.*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.*3253G>C rs563717612 0.00172
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.*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.287G>A (p.Arg96Gln) rs199749069 0.00007
NM_031220.4(PITPNM3):c.*3723G>A rs371539500 0.00004
NM_031220.4(PITPNM3):c.838G>A (p.Ala280Thr) rs140298487 0.00003
NM_031220.4(PITPNM3):c.*2061C>T rs4796499
NM_031220.4(PITPNM3):c.*3708G>A rs574669515
NM_031220.4(PITPNM3):c.*3734G>A rs145961702
NM_031220.4(PITPNM3):c.*924G>A rs549677933
NM_031220.4(PITPNM3):c.36G>A (p.Pro12=) rs369702538

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