ClinVar Miner

List of variants in gene PSAP studied for Metachromatic leukodystrophy

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Gene type:
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Total variants: 80
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HGVS dbSNP gnomAD frequency
NM_002778.4(PSAP):c.-4C>T rs2070188 0.12811
NM_002778.4(PSAP):c.78C>T (p.Thr26=) rs74145688 0.00850
NM_002778.3(PSAP):c.-65C>T rs145948209 0.00785
NM_002778.4(PSAP):c.204C>T (p.Asp68=) rs143981174 0.00484
NM_001042465.2(PSAP):c.-118G>A rs28365838 0.00331
NM_002778.4(PSAP):c.16C>T (p.Leu6Phe) rs148279196 0.00269
NM_002778.4(PSAP):c.1056C>T (p.Ser352=) rs138328594 0.00185
NM_002778.4(PSAP):c.120C>T (p.Ser40=) rs141231601 0.00134
NM_002778.4(PSAP):c.577G>C (p.Asp193His) rs149305591 0.00039
NM_002778.4(PSAP):c.966G>A (p.Val322=) rs139413990 0.00037
NM_002778.4(PSAP):c.578A>G (p.Asp193Gly) rs138636858 0.00036
NM_002778.4(PSAP):c.117G>A (p.Ala39=) rs200836594 0.00029
NM_002778.4(PSAP):c.1294A>T (p.Ile432Phe) rs532242066 0.00024
NM_002778.4(PSAP):c.1374C>T (p.Tyr458=) rs146925179 0.00021
NM_002778.4(PSAP):c.1381G>A (p.Val461Met) rs138716613 0.00014
NM_002778.4(PSAP):c.1088C>T (p.Thr363Met) rs140066253 0.00013
NM_002778.4(PSAP):c.855C>T (p.Ala285=) rs1040901231 0.00011
NM_002778.4(PSAP):c.1172C>T (p.Thr391Met) rs202125074 0.00010
NM_002778.4(PSAP):c.588C>T (p.Asp196=) rs374869360 0.00008
NM_002778.4(PSAP):c.623T>G (p.Ile208Ser) rs200319381 0.00008
NM_002778.4(PSAP):c.379C>T (p.Arg127Cys) rs148519599 0.00007
NM_002778.4(PSAP):c.864C>T (p.Ala288=) rs747491605 0.00007
NM_002778.4(PSAP):c.1017C>T (p.Leu339=) rs146778046 0.00006
NM_002778.4(PSAP):c.1389C>T (p.Ile463=) rs762811199 0.00005
NM_002778.4(PSAP):c.41-17_41-9dup rs768077397 0.00005
NM_002778.4(PSAP):c.852C>T (p.Pro284=) rs370435627 0.00005
NM_002778.3(PSAP):c.-50G>T rs886047154 0.00004
NM_002778.4(PSAP):c.1281C>T (p.Ser427=) rs529776324 0.00004
NM_002778.4(PSAP):c.167C>G (p.Pro56Arg) rs571773332 0.00004
NM_002778.4(PSAP):c.370G>C (p.Glu124Gln) rs770893932 0.00004
NM_002778.4(PSAP):c.414C>T (p.Cys138=) rs769564352 0.00004
NM_002778.4(PSAP):c.589G>A (p.Val197Ile) rs191952316 0.00004
NM_002778.4(PSAP):c.6C>T (p.Tyr2=) rs774482765 0.00004
NM_002778.4(PSAP):c.1341C>T (p.Tyr447=) rs572916661 0.00003
NM_002778.4(PSAP):c.1432-3T>C rs200577646 0.00003
NM_002778.4(PSAP):c.1495C>T (p.Pro499Ser) rs143773764 0.00003
NM_002778.4(PSAP):c.1537A>G (p.Asn513Asp) rs778904848 0.00003
NM_002778.4(PSAP):c.638G>A (p.Arg213Gln) rs773913014 0.00003
NM_002778.4(PSAP):c.679_681del (p.Lys227del) rs1431844269 0.00003
NM_002778.4(PSAP):c.798G>A (p.Ala266=) rs199672678 0.00003
NM_002778.4(PSAP):c.1018G>A (p.Asp340Asn) rs759154767 0.00002
NM_002778.4(PSAP):c.10C>G (p.Leu4Val) rs574280149 0.00002
NM_002778.4(PSAP):c.1137G>C (p.Glu379Asp) rs754680319 0.00002
NM_002778.4(PSAP):c.1196A>G (p.His399Arg) rs756831806 0.00002
NM_002778.4(PSAP):c.127G>A (p.Gly43Arg) rs554592821 0.00002
NM_002778.4(PSAP):c.153C>T (p.Thr51=) rs11555016 0.00002
NM_002778.4(PSAP):c.415G>A (p.Glu139Lys) rs753606836 0.00002
NM_002778.4(PSAP):c.645C>A (p.Asn215Lys) rs770171865 0.00002
NM_002778.4(PSAP):c.916G>A (p.Glu306Lys) rs1431665170 0.00002
NM_002778.4(PSAP):c.1146C>T (p.Cys382=) rs573095617 0.00001
NM_002778.4(PSAP):c.1173G>A (p.Thr391=) rs368085481 0.00001
NM_002778.4(PSAP):c.1192G>A (p.Val398Ile) rs759178813 0.00001
NM_002778.4(PSAP):c.128G>A (p.Gly43Glu) rs558427025 0.00001
NM_002778.4(PSAP):c.1322G>A (p.Ser441Asn) rs540436494 0.00001
NM_002778.4(PSAP):c.1422C>T (p.Phe474=) rs528318545 0.00001
NM_002778.4(PSAP):c.161A>G (p.Asn54Ser) rs539091862 0.00001
NM_002778.4(PSAP):c.239A>G (p.Asn80Ser) rs570654892 0.00001
NM_002778.4(PSAP):c.26G>A (p.Ser9Asn) rs746678274 0.00001
NM_002778.4(PSAP):c.67A>G (p.Lys23Glu) rs143016278 0.00001
NM_002778.3(PSAP):c.-33T>C rs143987544
NM_002778.3(PSAP):c.-56A>G rs534586960
NM_002778.3(PSAP):c.-62A>G rs886047155
NM_002778.3(PSAP):c.-99T>G rs886047156
NM_002778.4(PSAP):c.1046T>C (p.Leu349Pro) rs121918110
NM_002778.4(PSAP):c.1076A>C (p.Glu359Ala) rs765744298
NM_002778.4(PSAP):c.1122G>C (p.Glu374Asp) rs775169672
NM_002778.4(PSAP):c.1138C>T (p.Leu380=) rs751199102
NM_002778.4(PSAP):c.1233G>A (p.Val411=) rs751867103
NM_002778.4(PSAP):c.1258G>A (p.Asp420Asn) rs760621775
NM_002778.4(PSAP):c.1278C>T (p.Asn426=) rs777227555
NM_002778.4(PSAP):c.1323C>G (p.Ser441Arg) rs1419823465
NM_002778.4(PSAP):c.1557A>G (p.Lys519=) rs751061015
NM_002778.4(PSAP):c.1A>G (p.Met1Val) rs121918106
NM_002778.4(PSAP):c.409C>G (p.Leu137Val) rs377027316
NM_002778.4(PSAP):c.41C>T (p.Ala14Val) rs1842584616
NM_002778.4(PSAP):c.450C>A (p.His150Gln) rs757752213
NM_002778.4(PSAP):c.503T>C (p.Val168Ala) rs773142808
NM_002778.4(PSAP):c.570G>A (p.Gln190=) rs142272618
NM_002778.4(PSAP):c.587A>G (p.Asp196Gly) rs1842431098
NM_002778.4(PSAP):c.8C>G (p.Ala3Gly) rs969229358

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