ClinVar Miner

List of variants in gene PSAP reported as uncertain significance for Metachromatic leukodystrophy

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Total variants: 54
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HGVS dbSNP gnomAD frequency
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.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.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.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.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.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.1018G>A (p.Asp340Asn) rs759154767 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.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.1322G>A (p.Ser441Asn) rs540436494 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.-56A>G rs534586960
NM_002778.3(PSAP):c.-62A>G rs886047155
NM_002778.3(PSAP):c.-99T>G rs886047156
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.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.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.587A>G (p.Asp196Gly) rs1842431098
NM_002778.4(PSAP):c.8C>G (p.Ala3Gly) rs969229358

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