ClinVar Miner

List of variants in gene combination ASPA, SPATA22 reported as uncertain significance for Spongy degeneration of central nervous system

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Total variants: 88
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HGVS dbSNP gnomAD frequency
NM_000049.4(ASPA):c.703G>A (p.Glu235Lys) rs149842031 0.00537
NM_000049.4(ASPA):c.*27C>T rs151133430 0.00487
NM_000049.4(ASPA):c.509T>C (p.Ile170Thr) rs144321760 0.00071
NM_000049.4(ASPA):c.832G>A (p.Val278Met) rs140581464 0.00028
NM_000049.4(ASPA):c.230A>G (p.Asn77Ser) rs574328488 0.00017
NM_000049.4(ASPA):c.427A>G (p.Ile143Val) rs199565861 0.00014
NM_000049.4(ASPA):c.78C>T (p.Thr26=) rs145616193 0.00011
NM_000049.4(ASPA):c.-152C>T rs886052821 0.00009
NM_000049.4(ASPA):c.906G>A (p.Thr302=) rs371394875 0.00009
NM_000049.4(ASPA):c.237-6T>C rs370219865 0.00008
NM_000049.4(ASPA):c.301G>T (p.Gly101Cys) rs752153847 0.00006
NM_000049.4(ASPA):c.*246G>A rs769255741 0.00005
NM_000049.4(ASPA):c.840C>T (p.Pro280=) rs148081446 0.00005
NM_000049.4(ASPA):c.563G>A (p.Arg188Lys) rs1272903968 0.00004
NM_000049.4(ASPA):c.698G>A (p.Arg233Gln) rs776560292 0.00003
NM_000049.4(ASPA):c.237-2A>T rs780936696 0.00002
NM_000049.4(ASPA):c.671A>C (p.Lys224Thr) rs751242787 0.00002
NM_000049.4(ASPA):c.697C>T (p.Arg233Trp) rs367957948 0.00002
NM_000049.4(ASPA):c.905C>T (p.Thr302Met) rs763869261 0.00002
NM_000049.4(ASPA):c.925C>T (p.Arg309Cys) rs755140673 0.00002
NM_000049.4(ASPA):c.926G>A (p.Arg309His) rs778121276 0.00002
NM_000049.4(ASPA):c.-6G>A rs1212818519 0.00001
NM_000049.4(ASPA):c.113G>A (p.Gly38Asp) rs1456006856 0.00001
NM_000049.4(ASPA):c.328G>C (p.Asp110His) rs781156670 0.00001
NM_000049.4(ASPA):c.432G>A (p.Lys144=) rs754087904 0.00001
NM_000049.4(ASPA):c.448C>T (p.Leu150=) rs1597432362 0.00001
NM_000049.4(ASPA):c.539G>T (p.Gly180Val) rs1014551540 0.00001
NM_000049.4(ASPA):c.634+1G>T rs753871454 0.00001
NM_000049.4(ASPA):c.637A>G (p.Lys213Glu) rs528179434 0.00001
NM_000049.4(ASPA):c.767A>G (p.His256Arg) rs2073954194 0.00001
NM_000049.4(ASPA):c.770C>G (p.Pro257Arg) rs377217076 0.00001
NM_000049.4(ASPA):c.807G>A (p.Thr269=) rs759106494 0.00001
NM_000049.4(ASPA):c.809T>C (p.Ile270Thr) rs200126822 0.00001
NM_000049.4(ASPA):c.838C>T (p.Pro280Ser) rs750505963 0.00001
NM_000049.4(ASPA):c.867C>T (p.Tyr289=) rs375736464 0.00001
NM_000049.4(ASPA):c.931T>C (p.Cys311Arg) rs959111875 0.00001
NM_000049.4(ASPA):c.-105T>C rs886052822
NM_000049.4(ASPA):c.131C>G (p.Thr44Arg)
NM_000049.4(ASPA):c.133G>C (p.Gly45Arg)
NM_000049.4(ASPA):c.170C>T (p.Ala57Val) rs1555538148
NM_000049.4(ASPA):c.188G>C (p.Arg63Thr) rs1555538151
NM_000049.4(ASPA):c.224T>C (p.Leu75Pro) rs2150741914
NM_000049.4(ASPA):c.290A>G (p.Asn97Ser)
NM_000049.4(ASPA):c.326A>G (p.Tyr109Cys)
NM_000049.4(ASPA):c.350A>C (p.Asn117Thr)
NM_000049.4(ASPA):c.359C>T (p.Ser120Phe) rs2073633178
NM_000049.4(ASPA):c.376C>G (p.Leu126Val)
NM_000049.4(ASPA):c.38A>G (p.Lys13Arg)
NM_000049.4(ASPA):c.405T>A (p.Phe135Leu)
NM_000049.4(ASPA):c.40G>A (p.Val14Ile)
NM_000049.4(ASPA):c.427A>T (p.Ile143Phe) rs199565861
NM_000049.4(ASPA):c.428T>C (p.Ile143Thr) rs777936704
NM_000049.4(ASPA):c.437_449del (p.Ser146fs) rs2073669074
NM_000049.4(ASPA):c.460G>A (p.Val154Ile)
NM_000049.4(ASPA):c.470T>C (p.Ile157Thr)
NM_000049.4(ASPA):c.487A>C (p.Lys163Gln)
NM_000049.4(ASPA):c.493G>A (p.Ala165Thr) rs2150748669
NM_000049.4(ASPA):c.499A>G (p.Thr167Ala)
NM_000049.4(ASPA):c.530T>C (p.Ile177Thr) rs1597438977
NM_000049.4(ASPA):c.542C>T (p.Pro181Leu) rs1335267315
NM_000049.4(ASPA):c.556del (p.Val186fs) rs1567614635
NM_000049.4(ASPA):c.565G>T (p.Ala189Ser)
NM_000049.4(ASPA):c.566C>G (p.Ala189Gly) rs2150753573
NM_000049.4(ASPA):c.594G>A (p.Met198Ile)
NM_000049.4(ASPA):c.59C>T (p.Thr20Ile)
NM_000049.4(ASPA):c.613_621del (p.Phe205_His207del) rs1555539888
NM_000049.4(ASPA):c.634+3A>G
NM_000049.4(ASPA):c.635-3T>C
NM_000049.4(ASPA):c.649C>T (p.Pro217Ser)
NM_000049.4(ASPA):c.659T>C (p.Ile220Thr)
NM_000049.4(ASPA):c.65G>A (p.Gly22Glu) rs1256380639
NM_000049.4(ASPA):c.700G>A (p.Asp234Asn) rs1459384444
NM_000049.4(ASPA):c.723T>C (p.Ala241=) rs2073877008
NM_000049.4(ASPA):c.731A>C (p.His244Pro) rs1057516995
NM_000049.4(ASPA):c.740T>C (p.Leu247Pro) rs2073877343
NM_000049.4(ASPA):c.744+6A>T
NM_000049.4(ASPA):c.773G>C (p.Gly258Ala)
NM_000049.4(ASPA):c.788T>C (p.Leu263Ser) rs755061005
NM_000049.4(ASPA):c.839C>T (p.Pro280Leu) rs1555541310
NM_000049.4(ASPA):c.875AAG[1] (p.Glu293del) rs1555541321
NM_000049.4(ASPA):c.895A>G (p.Thr299Ala)
NM_000049.4(ASPA):c.899A>G (p.Lys300Arg)
NM_000049.4(ASPA):c.89T>C (p.Leu30Pro) rs1555538144
NM_000049.4(ASPA):c.902T>C (p.Leu301Pro)
NM_000049.4(ASPA):c.928T>G (p.Cys310Gly)
NM_000049.4(ASPA):c.929G>A (p.Cys310Tyr)
NM_000049.4(ASPA):c.935T>G (p.Leu312Ter) rs1555541343
NM_000049.4(ASPA):c.936A>T (p.Leu312Phe)

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