ClinVar Miner

List of variants in gene P3H1 reported by GeneDx

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Gene type:
ClinVar version:
Total variants: 119
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HGVS dbSNP gnomAD frequency
NM_022356.4(P3H1):c.466-43A>T rs2816593 0.98803
NM_022356.4(P3H1):c.1720+286T>C rs1018572 0.98681
NM_022356.4(P3H1):c.1839-141A>G rs7552138 0.72763
NM_022356.4(P3H1):c.618+127C>T rs2760070 0.69640
NM_022356.4(P3H1):c.*257G>A rs6882 0.63640
NM_022356.3(P3H1):c.-165G>C rs3738504 0.59343
NM_022356.4(P3H1):c.1570-314G>C rs76550035 0.52965
NM_022356.4(P3H1):c.1839-30G>A rs3738499 0.52507
NC_000001.11:g.42767206A>T rs3738505 0.21968
NC_000001.11:g.42767127G>T rs11210712 0.20074
NM_022356.4(P3H1):c.2055+74T>A rs3738496 0.11033
NM_022356.4(P3H1):c.1838+74T>C rs3738500 0.11031
NM_022356.4(P3H1):c.2055+17C>T rs67014447 0.06792
NM_022356.4(P3H1):c.1570-176T>C rs11576228 0.06335
NM_022356.4(P3H1):c.1915-20T>G rs3738498 0.06305
NM_022356.4(P3H1):c.1080+147G>A rs3738503 0.06301
NM_022356.4(P3H1):c.1914+109G>A rs72661349 0.06040
NM_022356.4(P3H1):c.*77C>T rs13871 0.06035
NM_022356.4(P3H1):c.1045G>A (p.Gly349Arg) rs6700677 0.06024
NM_022356.4(P3H1):c.1647G>A (p.Met549Ile) rs11581921 0.05897
NM_022356.4(P3H1):c.1170+32G>A rs3738502 0.05587
NM_022356.4(P3H1):c.139G>T (p.Ala47Ser) rs55716016 0.04262
NM_022356.4(P3H1):c.941-52A>C rs72956932 0.04240
NM_022356.4(P3H1):c.1569+43G>A rs74070021 0.02354
NM_022356.4(P3H1):c.1838+182G>A rs74070019 0.02336
NM_022356.4(P3H1):c.1284C>T (p.Ile428=) rs61746642 0.01592
NM_022356.4(P3H1):c.1026C>T (p.Ala342=) rs61100157 0.01581
NM_022356.4(P3H1):c.1569+3A>G rs76871760 0.01579
NM_022356.4(P3H1):c.1720+299A>G rs77991629 0.01577
NM_022356.4(P3H1):c.1812C>T (p.Pro604=) rs34809608 0.01577
NM_022356.4(P3H1):c.1346-284G>A rs79290834 0.01574
NM_022356.4(P3H1):c.1720+52C>T rs75763761 0.01574
NM_022356.4(P3H1):c.1570-203T>C rs146000205 0.01325
NM_022356.4(P3H1):c.978C>T (p.Thr326=) rs74070022 0.01251
NM_022356.4(P3H1):c.1233G>A (p.Arg411=) rs61746653 0.01103
NM_022356.4(P3H1):c.941-93G>C rs116535864 0.01061
NM_022356.4(P3H1):c.1080+42C>T rs12127559 0.00995
NM_022356.4(P3H1):c.1838+197C>T rs45549742 0.00988
NM_022356.4(P3H1):c.1171-154G>A rs144904688 0.00979
NM_022356.4(P3H1):c.618+165G>A rs114059365 0.00869
NM_022356.4(P3H1):c.2055+70G>T rs115690038 0.00864
NM_022356.4(P3H1):c.1721-101G>A rs115436009 0.00795
NM_022356.4(P3H1):c.611C>A (p.Pro204His) rs77208721 0.00751
NM_022356.4(P3H1):c.940+90A>G rs114545255 0.00700
NM_022356.4(P3H1):c.-45C>T rs183564323 0.00663
NM_022356.4(P3H1):c.2056-157C>T rs80296318 0.00662
NM_022356.4(P3H1):c.619-47G>T rs72956934 0.00648
NM_022356.4(P3H1):c.1080+115A>G rs7521929 0.00613
NM_022356.4(P3H1):c.1716C>T (p.Ile572=) rs35500164 0.00563
NM_022356.4(P3H1):c.466-60G>C rs151287070 0.00449
NM_022356.4(P3H1):c.1839-67G>A rs146671123 0.00426
NM_022356.4(P3H1):c.2115C>T (p.Leu705=) rs199887811 0.00409
NM_022356.4(P3H1):c.1720+284G>A rs138377612 0.00403
NM_022356.4(P3H1):c.1839-177del rs143712697 0.00390
NM_022356.4(P3H1):c.1345+225G>A rs75941006 0.00378
NM_022356.4(P3H1):c.1322A>G (p.Asp441Gly) rs113593896 0.00341
NM_022356.4(P3H1):c.1720+241G>A rs534899129 0.00339
NM_022356.4(P3H1):c.1081-254G>T rs149024016 0.00337
NM_022356.4(P3H1):c.1930C>A (p.Gln644Lys) rs3738497 0.00321
NM_022356.4(P3H1):c.1473+5G>T rs114044880 0.00294
NM_022356.4(P3H1):c.1501C>T (p.Arg501Trp) rs115108794 0.00209
NM_022356.4(P3H1):c.33A>G (p.Thr11=) rs144378478 0.00140
NM_022356.4(P3H1):c.1915-23C>G rs74588317 0.00116
NM_022356.4(P3H1):c.1504G>C (p.Gly502Arg) rs139259804 0.00103
NM_022356.4(P3H1):c.1529A>G (p.Asn510Ser) rs149894086 0.00092
NM_022356.4(P3H1):c.1080+1G>T rs72659351 0.00068
NM_022356.4(P3H1):c.2147G>C (p.Gly716Ala) rs573577299 0.00068
NM_022356.4(P3H1):c.1806A>C (p.Lys602Asn) rs144336336 0.00066
NM_022356.4(P3H1):c.194G>A (p.Arg65Gln) rs372710498 0.00065
NM_022356.4(P3H1):c.1795G>A (p.Val599Met) rs140254470 0.00050
NM_022356.4(P3H1):c.2152C>G (p.Pro718Ala) rs533729683 0.00038
NM_022356.4(P3H1):c.1963A>G (p.Thr655Ala) rs138939786 0.00032
NM_022356.4(P3H1):c.1720+4G>A rs371232413 0.00031
NM_022356.4(P3H1):c.693G>A (p.Ala231=) rs149113630 0.00027
NM_022356.4(P3H1):c.1761C>T (p.His587=) rs148338728 0.00024
NM_022356.4(P3H1):c.1740G>A (p.Lys580=) rs201381243 0.00021
NM_022356.4(P3H1):c.1425C>T (p.Asp475=) rs373467876 0.00019
NM_022356.4(P3H1):c.1071C>T (p.Gly357=) rs202234531 0.00014
NM_022356.4(P3H1):c.435C>G (p.Pro145=) rs759352609 0.00014
NM_022356.4(P3H1):c.1517C>G (p.Pro506Arg) rs3738501 0.00010
NM_022356.4(P3H1):c.1243G>A (p.Val415Ile) rs147423732 0.00008
NM_022356.4(P3H1):c.1626G>A (p.Thr542=) rs577059613 0.00007
NM_022356.4(P3H1):c.81G>C (p.Glu27Asp) rs201750444 0.00007
NM_022356.4(P3H1):c.1828C>T (p.Arg610Cys) rs150808079 0.00006
NM_022356.4(P3H1):c.756C>T (p.Tyr252=) rs770943260 0.00006
NM_022356.4(P3H1):c.2055+18G>A rs137853890 0.00003
NM_022356.4(P3H1):c.2104G>A (p.Glu702Lys) rs565510744 0.00003
NM_022356.4(P3H1):c.2164C>A (p.Gln722Lys) rs771006240 0.00003
NM_022356.4(P3H1):c.953C>T (p.Thr318Ile) rs201020061 0.00002
NM_022356.4(P3H1):c.1919A>G (p.Glu640Gly) rs764935317 0.00001
NM_022356.4(P3H1):c.1A>G (p.Met1Val) rs761033636 0.00001
NM_022356.4(P3H1):c.2042G>A (p.Arg681Gln) rs575594548 0.00001
NM_022356.4(P3H1):c.392C>A (p.Ser131Ter) rs72659347 0.00001
NM_022356.4(P3H1):c.420C>T (p.Phe140=) rs1027100537 0.00001
NM_022356.4(P3H1):c.599T>G (p.Leu200Arg) rs747865105 0.00001
NM_022356.4(P3H1):c.79G>A (p.Glu27Lys) rs746863189 0.00001
NM_001243246.2(P3H1):c.2068_2086dup (p.Trp696delinsSerSerGlyTer)
NM_022356.4(P3H1):c.*4_*10del rs767524042
NM_022356.4(P3H1):c.1081-132AG[2] rs60025227
NM_022356.4(P3H1):c.1120G>T (p.Glu374Ter) rs140468248
NM_022356.4(P3H1):c.1308C>T (p.Thr436=) rs111588746
NM_022356.4(P3H1):c.1529A>C (p.Asn510Thr) rs149894086
NM_022356.4(P3H1):c.1569+1G>A rs369651701
NM_022356.4(P3H1):c.1570-294T>C rs1451483017
NM_022356.4(P3H1):c.1570-314_1570-313insCC rs1170151221
NM_022356.4(P3H1):c.1570-318_1570-317insCA rs1198827630
NM_022356.4(P3H1):c.1570-320_1570-319insT rs1301230654
NM_022356.4(P3H1):c.1570-323A>C rs71518462
NM_022356.4(P3H1):c.1570-324_1570-323insCCC rs1232774164
NM_022356.4(P3H1):c.1570-327G>A rs1432381757
NM_022356.4(P3H1):c.1720+261C>T rs113149930
NM_022356.4(P3H1):c.1838+66C>A rs59442926
NM_022356.4(P3H1):c.2055+13C>G rs76628300
NM_022356.4(P3H1):c.2055+86A>G
NM_022356.4(P3H1):c.2076C>G (p.Asp692Glu) rs1383357893
NM_022356.4(P3H1):c.41C>G (p.Ala14Gly)
NM_022356.4(P3H1):c.619-5A>C rs1057523341
NM_022356.4(P3H1):c.64G>A (p.Ala22Thr)
NM_022356.4(P3H1):c.838C>T (p.Gln280Ter) rs1652551021

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