ClinVar Miner

List of variants studied for PSPH deficiency

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 163
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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.*11C>T rs35136814 0.05490
NM_004577.4(PSPH):c.*406G>A rs145544909 0.05479
NM_004577.4(PSPH):c.*490C>T rs71543776 0.05383
NM_004577.4(PSPH):c.-3G>A rs201958642 0.04483
NM_004577.4(PSPH):c.-19-4G>A rs200942360 0.04440
NM_004577.4(PSPH):c.169C>T (p.Pro57Ser) rs79321413 0.04104
NM_004577.4(PSPH):c.203T>C (p.Leu68Pro) rs78067484 0.04067
NM_004577.3(PSPH):c.-632C>T rs34822782 0.03837
NM_004577.4(PSPH):c.189A>G (p.Thr63=) rs201935398 0.03758
NM_004577.4(PSPH):c.194G>A (p.Arg65His) rs200442078 0.03604
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 0.00697
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 0.00460
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 0.00125
NM_004577.4(PSPH):c.455C>T (p.Thr152Ile) rs147304638 0.00081
NM_004577.4(PSPH):c.-339T>C rs535243315 0.00074
NM_004577.4(PSPH):c.115G>A (p.Gly39Ser) rs147077540 0.00062
NM_004577.4(PSPH):c.-357C>T rs745752622 0.00051
NM_004577.4(PSPH):c.94G>A (p.Asp32Asn) rs104894035 0.00048
NM_004577.3(PSPH):c.-683G>C rs148855313 0.00039
NM_004577.4(PSPH):c.*317G>A rs565399960 0.00024
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.-145-15A>G rs552907219 0.00019
NM_004577.4(PSPH):c.*12G>A rs376164457 0.00017
NM_004577.4(PSPH):c.-485A>G rs530804173 0.00016
NM_004577.4(PSPH):c.129G>A (p.Ala43=) rs548513131 0.00014
NM_004577.4(PSPH):c.422-3A>C rs376149020 0.00014
NM_004577.4(PSPH):c.624C>T (p.Asn208=) rs146008713 0.00013
NM_004577.4(PSPH):c.*341G>A rs886062387 0.00011
NM_004577.4(PSPH):c.149G>A (p.Arg50Gln) rs554689284 0.00010
NM_004577.4(PSPH):c.673G>A (p.Glu225Lys) rs536712417 0.00010
NM_004577.4(PSPH):c.276-14A>G rs769475589 0.00009
NM_004577.4(PSPH):c.354T>C (p.His118=) rs373775129 0.00009
NM_004577.4(PSPH):c.420C>T (p.Asn140=) rs146276460 0.00008
NM_004577.4(PSPH):c.-130G>T rs529188025 0.00007
NM_004577.4(PSPH):c.*278C>T rs183424432 0.00006
NM_004577.4(PSPH):c.612A>C (p.Gln204His) rs367649146 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.*203T>C rs997839370 0.00004
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.398A>G (p.Asn133Ser) rs148469975 0.00004
NM_004577.4(PSPH):c.447G>A (p.Thr149=) rs143341199 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.*649A>C rs766855269 0.00003
NM_004577.4(PSPH):c.302G>A (p.Arg101Gln) rs377489734 0.00003
NM_004577.4(PSPH):c.371A>G (p.Asn124Ser) rs761409780 0.00003
NM_004577.4(PSPH):c.421G>A (p.Gly141Ser) rs534946771 0.00003
NM_004577.4(PSPH):c.441T>C (p.Asp147=) rs374776295 0.00003
NM_004577.4(PSPH):c.570+5G>C rs373367280 0.00003
NM_004577.4(PSPH):c.672A>G (p.Glu224=) rs771211504 0.00003
NM_004577.4(PSPH):c.-430T>G rs886062393 0.00002
NM_004577.4(PSPH):c.341G>T (p.Ser114Ile) rs140301679 0.00002
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_004577.3(PSPH):c.-715T>C rs886062398 0.00001
NM_004577.4(PSPH):c.-396C>G rs1489692450 0.00001
NM_004577.4(PSPH):c.-461A>G rs886062394 0.00001
NM_004577.4(PSPH):c.155T>C (p.Met52Thr) rs104894036 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.301C>T (p.Arg101Ter) rs1264747554 0.00001
NM_004577.4(PSPH):c.316T>C (p.Phe106Leu) rs1295914487 0.00001
NM_004577.4(PSPH):c.353A>G (p.His118Arg) rs1339587709 0.00001
NM_004577.4(PSPH):c.358G>T (p.Ala120Ser) rs1290090200 0.00001
NM_004577.4(PSPH):c.366G>C (p.Lys122Asn) rs1788685345 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.421+20A>G rs766608256 0.00001
NM_004577.4(PSPH):c.422-4T>G rs1255771879 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.542C>T (p.Ala181Val) rs527489732 0.00001
NM_004577.4(PSPH):c.570+14G>A rs773961687 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.604A>C (p.Arg202=) rs1160520229 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.635A>G (p.Tyr212Cys) rs775832385 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.*233dup rs34727399
NM_004577.4(PSPH):c.*46A>C rs1787928354
NM_004577.4(PSPH):c.-19-13dup rs368626187
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.-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.204C>A (p.Leu68=) rs201644817
NM_004577.4(PSPH):c.249A>C (p.Gln83His) rs73343757
NM_004577.4(PSPH):c.276-17T>C rs1788701522
NM_004577.4(PSPH):c.276-20T>G rs1788701887
NM_004577.4(PSPH):c.276-2A>G rs2534874304
NM_004577.4(PSPH):c.276-4G>C rs578109497
NM_004577.4(PSPH):c.276G>A (p.Arg92=) rs2116569669
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.339G>A (p.Arg113=) rs2116568145
NM_004577.4(PSPH):c.340del (p.Ser114fs) rs1788688718
NM_004577.4(PSPH):c.351G>A (p.Glu117=) rs766126853
NM_004577.4(PSPH):c.351G>T (p.Glu117Asp) rs766126853
NM_004577.4(PSPH):c.369C>T (p.Leu123=) rs773338634
NM_004577.4(PSPH):c.372T>C (p.Asn124=) rs2534872061
NM_004577.4(PSPH):c.379G>A (p.Ala127Thr) rs768449967
NM_004577.4(PSPH):c.390A>G (p.Val130=) rs2534871602
NM_004577.4(PSPH):c.402G>T (p.Arg134Ser) rs2534871142
NM_004577.4(PSPH):c.408A>G (p.Lys136=) rs2534871058
NM_004577.4(PSPH):c.421+10T>C
NM_004577.4(PSPH):c.421+12A>T rs2116565444
NM_004577.4(PSPH):c.421+20A>T rs766608256
NM_004577.4(PSPH):c.422-14A>C rs749619757
NM_004577.4(PSPH):c.424G>A (p.Glu142Lys) rs1788411017
NM_004577.4(PSPH):c.432A>C (p.Ala144=) rs2534835818
NM_004577.4(PSPH):c.450G>A (p.Gln150=) rs2116515322
NM_004577.4(PSPH):c.464C>T (p.Ser155Phe) rs2534834720
NM_004577.4(PSPH):c.479A>G (p.Lys160Arg) rs2116514675
NM_004577.4(PSPH):c.484A>G (p.Ile162Val) rs1788403688
NM_004577.4(PSPH):c.489A>G (p.Lys163=) rs2116514516
NM_004577.4(PSPH):c.506T>C (p.Phe169Ser) rs1253579440
NM_004577.4(PSPH):c.509A>G (p.His170Arg) rs1788401716
NM_004577.4(PSPH):c.540T>C (p.Gly180=) rs2534833351
NM_004577.4(PSPH):c.549T>C (p.Asp183=) rs2534833176
NM_004577.4(PSPH):c.570+12G>C rs1455581364
NM_004577.4(PSPH):c.570+19A>G rs2116512576
NM_004577.4(PSPH):c.571-5C>T
NM_004577.4(PSPH):c.593G>A (p.Gly198Glu) rs2534769564
NM_004577.4(PSPH):c.595A>C (p.Asn199His) rs1050709633
NM_004577.4(PSPH):c.640A>C (p.Thr214Pro)
NM_004577.4(PSPH):c.641C>G (p.Thr214Ser) rs2116425690
NM_004577.4(PSPH):c.651A>G (p.Val217=) rs2534767698
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

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