List of variants studied for Deficiency of phosphoserine phosphatase

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
		ClinVar version:

Total variants: 159

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_004577.4(PSPH):c.*361A>G	rs4947534	0.70873
NM_004577.4(PSPH):c.159C>T (p.Gly53=)	rs74874687	0.23305
NM_004577.4(PSPH):c.145C>T (p.Arg49Trp)	rs79451216	0.23299
NM_004577.4(PSPH):c.*406G>A	rs145544909	0.05387
NM_004577.4(PSPH):c.*490C>T	rs71543776	0.05383
NM_004577.4(PSPH):c.*11C>T	rs35136814	0.05380
NM_004577.3(PSPH):c.-632C>T	rs34822782	0.03837
NM_004577.4(PSPH):c.169C>T (p.Pro57Ser)	rs79321413	0.00851
NM_004577.4(PSPH):c.-429G>T	rs145447387	0.00789
NM_004577.4(PSPH):c.650T>C (p.Val217Ala)	rs73343752	0.00788
NM_004577.4(PSPH):c.*8T>C	rs140998795	0.00754
NM_004577.4(PSPH):c.-442A>G	rs184427284	0.00526
NM_004577.3(PSPH):c.-720G>T	rs190794562	0.00491
NM_004577.4(PSPH):c.-456T>C	rs190216482	0.00411
NM_004577.4(PSPH):c.72G>C (p.Thr24=)	rs145408555	0.00245
NM_004577.4(PSPH):c.126C>T (p.Asp42=)	rs75497420	0.00168
NM_004577.4(PSPH):c.146G>A (p.Arg49Gln)	rs144281276	0.00138
NM_004577.4(PSPH):c.455C>T (p.Thr152Ile)	rs147304638	0.00081
NM_004577.4(PSPH):c.-339T>C	rs535243315	0.00078
NM_004577.4(PSPH):c.115G>A (p.Gly39Ser)	rs147077540	0.00066
NM_004577.4(PSPH):c.-357C>T	rs745752622	0.00056
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.624C>T (p.Asn208=)	rs146008713	0.00011
NM_004577.4(PSPH):c.*317G>A	rs565399960	0.00009
NM_004577.4(PSPH):c.354T>C (p.His118=)	rs373775129	0.00009
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.447G>A (p.Thr149=)	rs143341199	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.422-14A>G	rs749619757	0.00002
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.414C>T (p.Tyr138=)	rs756554508	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.542C>T (p.Ala181Val)	rs527489732	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.609A>G (p.Gln203=)	rs752178752	0.00001
NM_004577.4(PSPH):c.60T>C (p.Asp20=)	rs201376678	0.00001
NM_004577.4(PSPH):c.615C>T (p.Val205=)	rs1335846307	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
NC_000007.13:g.(?_56079455)_(56174106_?)del
NC_000007.13:g.(?_56079455)_(56174106_?)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.-19-13dup	rs368626187
NM_004577.4(PSPH):c.-19-4G>A	rs200942360
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.-2C>G	rs201445503
NM_004577.4(PSPH):c.-333C>T	rs886062392
NM_004577.4(PSPH):c.-396C>G	rs1489692450
NM_004577.4(PSPH):c.-3G>A	rs201958642
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.103G>A (p.Ala35Thr)	rs786204793
NM_004577.4(PSPH):c.117C>T (p.Gly39=)	rs199851385
NM_004577.4(PSPH):c.120T>A (p.Val40=)	rs202027697
NM_004577.4(PSPH):c.155T>C (p.Met52Thr)	rs104894036
NM_004577.4(PSPH):c.189A>G (p.Thr63=)	rs201935398
NM_004577.4(PSPH):c.194G>A (p.Arg65His)	rs200442078
NM_004577.4(PSPH):c.203T>C (p.Leu68Pro)	rs78067484
NM_004577.4(PSPH):c.204C>A (p.Leu68=)	rs201644817
NM_004577.4(PSPH):c.249A>C (p.Gln83His)	rs73343757
NM_004577.4(PSPH):c.276-14A>G
NM_004577.4(PSPH):c.276-17T>C
NM_004577.4(PSPH):c.276-20T>G
NM_004577.4(PSPH):c.276-2A>G
NM_004577.4(PSPH):c.276-4G>C
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.339G>A (p.Arg113=)	rs2116568145
NM_004577.4(PSPH):c.340del (p.Ser114fs)	rs1788688718
NM_004577.4(PSPH):c.341G>T (p.Ser114Ile)
NM_004577.4(PSPH):c.351G>A (p.Glu117=)
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.369C>T (p.Leu123=)	rs773338634
NM_004577.4(PSPH):c.372T>C (p.Asn124=)
NM_004577.4(PSPH):c.379G>A (p.Ala127Thr)
NM_004577.4(PSPH):c.390A>G (p.Val130=)
NM_004577.4(PSPH):c.402G>T (p.Arg134Ser)
NM_004577.4(PSPH):c.408A>G (p.Lys136=)
NM_004577.4(PSPH):c.421+12A>T	rs2116565444
NM_004577.4(PSPH):c.421+20A>G
NM_004577.4(PSPH):c.421+20A>T
NM_004577.4(PSPH):c.421G>A (p.Gly141Ser)
NM_004577.4(PSPH):c.422-14A>C	rs749619757
NM_004577.4(PSPH):c.422-4T>G
NM_004577.4(PSPH):c.424G>A (p.Glu142Lys)
NM_004577.4(PSPH):c.432A>C (p.Ala144=)
NM_004577.4(PSPH):c.441T>C (p.Asp147=)
NM_004577.4(PSPH):c.450G>A (p.Gln150=)	rs2116515322
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.489A>G (p.Lys163=)	rs2116514516
NM_004577.4(PSPH):c.509A>G (p.His170Arg)	rs1788401716
NM_004577.4(PSPH):c.540T>C (p.Gly180=)
NM_004577.4(PSPH):c.549T>C (p.Asp183=)
NM_004577.4(PSPH):c.570+12G>C
NM_004577.4(PSPH):c.570+14G>A
NM_004577.4(PSPH):c.570+19A>G	rs2116512576
NM_004577.4(PSPH):c.593G>A (p.Gly198Glu)
NM_004577.4(PSPH):c.595A>C (p.Asn199His)
NM_004577.4(PSPH):c.604A>C (p.Arg202=)
NM_004577.4(PSPH):c.612A>C (p.Gln204His)
NM_004577.4(PSPH):c.641C>G (p.Thr214Ser)	rs2116425690
NM_004577.4(PSPH):c.651A>G (p.Val217=)
NM_004577.4(PSPH):c.672A>G (p.Glu224=)
NM_004577.4(PSPH):c.673G>C (p.Glu225Gln)	rs536712417
NM_004577.4(PSPH):c.81A>T (p.Arg27Ser)	rs74445297
NM_004577.4(PSPH):c.95A>G (p.Asp32Gly)	rs78599516

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.