ClinVar Miner

List of variants in gene P3H1 reported as likely benign by GeneDx

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 46
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HGVS dbSNP gnomAD frequency
NM_022356.4(P3H1):c.1570-203T>C rs146000205 0.01325
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.940+90A>G rs114545255 0.00700
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.466-60G>C rs151287070 0.00449
NM_022356.4(P3H1):c.1839-67G>A rs146671123 0.00426
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.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.33A>G (p.Thr11=) rs144378478 0.00140
NM_022356.4(P3H1):c.1915-23C>G rs74588317 0.00116
NM_022356.4(P3H1):c.1529A>G (p.Asn510Ser) rs149894086 0.00092
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.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.1626G>A (p.Thr542=) rs577059613 0.00007
NM_022356.4(P3H1):c.756C>T (p.Tyr252=) rs770943260 0.00006
NM_022356.4(P3H1):c.2164C>A (p.Gln722Lys) rs771006240 0.00003
NM_022356.4(P3H1):c.420C>T (p.Phe140=) rs1027100537 0.00001
NM_022356.4(P3H1):c.*4_*10del rs767524042
NM_022356.4(P3H1):c.1308C>T (p.Thr436=) rs111588746
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.1570-324_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.619-5A>C rs1057523341

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