ClinVar Miner

List of variants in gene PSPH reported as uncertain significance for PSPH deficiency

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 86
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_004577.3(PSPH):c.-720G>T rs190794562 0.00491
NM_004577.4(PSPH):c.455C>T (p.Thr152Ile) rs147304638 0.00081
NM_004577.4(PSPH):c.115G>A (p.Gly39Ser) rs147077540 0.00066
NM_004577.3(PSPH):c.-683G>C rs148855313 0.00019
NM_004577.3(PSPH):c.-708C>A rs187219685 0.00019
NM_004577.4(PSPH):c.*457C>T rs1318551050 0.00019
NM_004577.4(PSPH):c.-485A>G rs530804173 0.00019
NM_004577.4(PSPH):c.*12G>A rs376164457 0.00016
NM_004577.4(PSPH):c.422-3A>C rs376149020 0.00014
NM_004577.4(PSPH):c.*341G>A rs886062387 0.00011
NM_004577.4(PSPH):c.673G>A (p.Glu225Lys) rs536712417 0.00009
NM_004577.4(PSPH):c.-130G>T rs529188025 0.00007
NM_004577.4(PSPH):c.129G>A (p.Ala43=) rs548513131 0.00007
NM_004577.4(PSPH):c.*278C>T rs183424432 0.00006
NM_004577.4(PSPH):c.-145-15A>G rs552907219 0.00006
NM_004577.4(PSPH):c.*309A>G rs886062388 0.00005
NM_004577.4(PSPH):c.*588G>A rs751911806 0.00005
NM_004577.4(PSPH):c.346G>A (p.Val116Ile) rs751400364 0.00005
NM_004577.4(PSPH):c.420C>T (p.Asn140=) rs146276460 0.00005
NM_004577.4(PSPH):c.*316C>T rs190483183 0.00004
NM_004577.4(PSPH):c.*371A>G rs564916020 0.00004
NM_004577.4(PSPH):c.*649A>C rs766855269 0.00004
NM_004577.4(PSPH):c.398A>G (p.Asn133Ser) rs148469975 0.00004
NM_004577.4(PSPH):c.570+5G>C rs373367280 0.00004
NM_004577.3(PSPH):c.-711G>A rs886062397 0.00003
NM_004577.4(PSPH):c.*22A>G rs374366346 0.00003
NM_004577.4(PSPH):c.*277G>A rs886062389 0.00003
NM_004577.4(PSPH):c.149G>A (p.Arg50Gln) rs554689284 0.00003
NM_004577.4(PSPH):c.371A>G (p.Asn124Ser) rs761409780 0.00003
NM_004577.4(PSPH):c.469G>T (p.Gly157Ter) rs1410416350 0.00002
NM_004577.4(PSPH):c.597T>G (p.Asn199Lys) rs1324086852 0.00002
NM_004577.4(PSPH):c.635A>G (p.Tyr212Cys) rs775832385 0.00002
NM_004577.4(PSPH):c.94G>A (p.Asp32Asn) rs104894035 0.00002
NM_004577.3(PSPH):c.-715T>C rs886062398 0.00001
NM_004577.4(PSPH):c.-461A>G rs886062394 0.00001
NM_004577.4(PSPH):c.235C>T (p.Leu79Phe) rs201222280 0.00001
NM_004577.4(PSPH):c.289C>T (p.Arg97Cys) rs754344374 0.00001
NM_004577.4(PSPH):c.386A>G (p.Asn129Ser) rs771251320 0.00001
NM_004577.4(PSPH):c.446C>T (p.Thr149Met) rs374024099 0.00001
NM_004577.4(PSPH):c.467G>A (p.Gly156Asp) rs750270446 0.00001
NM_004577.4(PSPH):c.481G>A (p.Val161Met) rs765086289 0.00001
NM_004577.4(PSPH):c.506T>C (p.Phe169Ser) rs1253579440 0.00001
NM_004577.4(PSPH):c.575C>T (p.Ala192Val) rs779259191 0.00001
NM_004577.4(PSPH):c.596A>T (p.Asn199Ile) rs753682900 0.00001
NM_004577.4(PSPH):c.60T>C (p.Asp20=) rs201376678 0.00001
NM_004577.4(PSPH):c.647T>G (p.Phe216Cys) rs935820820 0.00001
NC_000007.13:g.(?_56079455)_(56082884_?)del
NC_000007.13:g.(?_56079455)_(56085092_?)del
NC_000007.13:g.(?_56079455)_(56085092_?)dup
NM_004577.3(PSPH):c.-681A>C rs886062396
NM_004577.3(PSPH):c.-708C>G rs187219685
NM_004577.4(PSPH):c.*157C>T rs1181829048
NM_004577.4(PSPH):c.*203T>C rs997839370
NM_004577.4(PSPH):c.*233dup rs34727399
NM_004577.4(PSPH):c.*46A>C rs1787928354
NM_004577.4(PSPH):c.-228C>G rs886062391
NM_004577.4(PSPH):c.-22A>G rs1791057401
NM_004577.4(PSPH):c.-235_-213delinsC rs886062390
NM_004577.4(PSPH):c.-396C>G rs1489692450
NM_004577.4(PSPH):c.-430T>G rs886062393
NM_004577.4(PSPH):c.-519C>G rs886062395
NM_004577.4(PSPH):c.-94G>A rs1440086288
NM_004577.4(PSPH):c.276-2A>G
NM_004577.4(PSPH):c.276G>A (p.Arg92=) rs2116569669
NM_004577.4(PSPH):c.302G>A (p.Arg101Gln)
NM_004577.4(PSPH):c.305A>G (p.Asn102Ser) rs1562786740
NM_004577.4(PSPH):c.306_307insTTC (p.Asn102_Val103insPhe) rs2116568545
NM_004577.4(PSPH):c.316T>C (p.Phe106Leu) rs1295914487
NM_004577.4(PSPH):c.341G>T (p.Ser114Ile)
NM_004577.4(PSPH):c.351G>T (p.Glu117Asp) rs766126853
NM_004577.4(PSPH):c.353A>G (p.His118Arg)
NM_004577.4(PSPH):c.358G>T (p.Ala120Ser)
NM_004577.4(PSPH):c.366G>C (p.Lys122Asn)
NM_004577.4(PSPH):c.379G>A (p.Ala127Thr)
NM_004577.4(PSPH):c.402G>T (p.Arg134Ser)
NM_004577.4(PSPH):c.421G>A (p.Gly141Ser)
NM_004577.4(PSPH):c.424G>A (p.Glu142Lys)
NM_004577.4(PSPH):c.464C>T (p.Ser155Phe)
NM_004577.4(PSPH):c.479A>G (p.Lys160Arg) rs2116514675
NM_004577.4(PSPH):c.484A>G (p.Ile162Val)
NM_004577.4(PSPH):c.509A>G (p.His170Arg) rs1788401716
NM_004577.4(PSPH):c.593G>A (p.Gly198Glu)
NM_004577.4(PSPH):c.595A>C (p.Asn199His)
NM_004577.4(PSPH):c.612A>C (p.Gln204His)
NM_004577.4(PSPH):c.641C>G (p.Thr214Ser) rs2116425690
NM_004577.4(PSPH):c.673G>C (p.Glu225Gln) rs536712417

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.