ClinVar Miner

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

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Total variants: 96
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HGVS dbSNP gnomAD frequency
NM_000049.4(ASPA):c.854A>C (p.Glu285Ala) rs28940279 0.00028
NM_000049.4(ASPA):c.212G>A (p.Arg71His) rs104894553 0.00015
NM_000049.4(ASPA):c.746A>T (p.Asp249Val) rs104894552 0.00006
NM_000049.4(ASPA):c.79G>A (p.Gly27Arg) rs766328537 0.00004
NM_000049.4(ASPA):c.237-2A>T rs780936696 0.00002
NM_000049.4(ASPA):c.820G>A (p.Gly274Arg) rs761064915 0.00002
NM_000049.4(ASPA):c.160A>C (p.Asn54His) rs757607501 0.00001
NM_000049.4(ASPA):c.162C>A (p.Asn54Lys) rs779440632 0.00001
NM_000049.4(ASPA):c.2T>C (p.Met1Thr) rs1057516879 0.00001
NM_000049.4(ASPA):c.368G>A (p.Gly123Glu) rs1057521115 0.00001
NM_000049.4(ASPA):c.432G>A (p.Lys144=) rs754087904 0.00001
NM_000049.4(ASPA):c.47T>C (p.Ile16Thr) rs769653717 0.00001
NM_000049.4(ASPA):c.503G>A (p.Arg168His) rs770706390 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.770C>G (p.Pro257Arg) rs377217076 0.00001
NM_000049.4(ASPA):c.838C>T (p.Pro280Ser) rs750505963 0.00001
NM_000049.4(ASPA):c.859G>A (p.Ala287Thr) rs774323189 0.00001
NM_000049.4(ASPA):c.941A>G (p.Ter314Trp) rs745832703 0.00001
NM_000049.4(ASPA):c.101G>A (p.Trp34Ter) rs2150741763
NM_000049.4(ASPA):c.147dup (p.Pro50fs) rs1597422432
NM_000049.4(ASPA):c.169G>T (p.Ala57Ser) rs2150741844
NM_000049.4(ASPA):c.211C>T (p.Arg71Cys) rs1192320601
NM_000049.4(ASPA):c.236+1G>A rs1555538157
NM_000049.4(ASPA):c.236+2T>A
NM_000049.4(ASPA):c.236+2T>C rs1567608718
NM_000049.4(ASPA):c.237-1G>A rs1057517291
NM_000049.4(ASPA):c.237-1G>T rs1057517291
NM_000049.4(ASPA):c.244_245del (p.Met82fs) rs786204620
NM_000049.4(ASPA):c.244dup (p.Met82fs) rs756198538
NM_000049.4(ASPA):c.245del (p.Met82fs) rs1057516962
NM_000049.4(ASPA):c.283G>T (p.Glu95Ter)
NM_000049.4(ASPA):c.321_322del (p.Ser108fs) rs1289890879
NM_000049.4(ASPA):c.32del (p.Ile11fs) rs767666474
NM_000049.4(ASPA):c.340G>T (p.Asp114Tyr) rs1446467099
NM_000049.4(ASPA):c.341A>C (p.Asp114Ala) rs2073632657
NM_000049.4(ASPA):c.362del (p.Asn121fs)
NM_000049.4(ASPA):c.376_377del (p.Leu126fs)
NM_000049.4(ASPA):c.382del (p.Glu129fs) rs1555538825
NM_000049.4(ASPA):c.385G>A (p.Glu129Lys) rs773049803
NM_000049.4(ASPA):c.3G>T (p.Met1Ile) rs1597422213
NM_000049.4(ASPA):c.406_407del (p.Leu136fs)
NM_000049.4(ASPA):c.40del (p.Val14fs)
NM_000049.4(ASPA):c.427A>T (p.Ile143Phe) rs199565861
NM_000049.4(ASPA):c.432+1G>A
NM_000049.4(ASPA):c.432+1G>C rs2150746934
NM_000049.4(ASPA):c.433-2A>G rs63751297
NM_000049.4(ASPA):c.454T>C (p.Cys152Arg) rs104894548
NM_000049.4(ASPA):c.455G>C (p.Cys152Ser)
NM_000049.4(ASPA):c.456_459del (p.Cys152fs)
NM_000049.4(ASPA):c.472G>T (p.Glu158Ter)
NM_000049.4(ASPA):c.502C>T (p.Arg168Cys) rs937670540
NM_000049.4(ASPA):c.514_515dup (p.Tyr173fs) rs1555539105
NM_000049.4(ASPA):c.526+1G>C
NM_000049.4(ASPA):c.527-1G>A
NM_000049.4(ASPA):c.527-2A>C rs778385612
NM_000049.4(ASPA):c.527-2A>G
NM_000049.4(ASPA):c.541C>A (p.Pro181Thr) rs786204572
NM_000049.4(ASPA):c.542C>T (p.Pro181Leu) rs1335267315
NM_000049.4(ASPA):c.548C>A (p.Pro183His) rs1555539857
NM_000049.4(ASPA):c.548C>T (p.Pro183Leu)
NM_000049.4(ASPA):c.557T>C (p.Val186Ala)
NM_000049.4(ASPA):c.580C>T (p.Gln194Ter) rs1482032907
NM_000049.4(ASPA):c.604G>C (p.Ala202Pro) rs147763700
NM_000049.4(ASPA):c.609del (p.Asp204fs) rs1597439149
NM_000049.4(ASPA):c.626del (p.Phe209fs) rs1555539897
NM_000049.4(ASPA):c.635-2A>G
NM_000049.4(ASPA):c.640G>T (p.Glu214Ter) rs1057516416
NM_000049.4(ASPA):c.650_651del (p.Pro217fs) rs1057516498
NM_000049.4(ASPA):c.677T>C (p.Ile226Thr)
NM_000049.4(ASPA):c.679_682del (p.Glu227fs) rs1555540674
NM_000049.4(ASPA):c.691T>C (p.Tyr231His)
NM_000049.4(ASPA):c.697del (p.Arg233fs) rs1057516315
NM_000049.4(ASPA):c.71A>G (p.Glu24Gly) rs104894551
NM_000049.4(ASPA):c.731A>G (p.His244Arg) rs1057516995
NM_000049.4(ASPA):c.731A>T (p.His244Leu)
NM_000049.4(ASPA):c.745-1G>A rs1555541278
NM_000049.4(ASPA):c.745-2A>G rs1057517066
NM_000049.4(ASPA):c.77C>T (p.Thr26Ile) rs1480068143
NM_000049.4(ASPA):c.796dup (p.Asp266fs) rs1555541291
NM_000049.4(ASPA):c.821G>A (p.Gly274Glu) rs2150764080
NM_000049.4(ASPA):c.827_828del (p.Cys276fs) rs1057517085
NM_000049.4(ASPA):c.831del (p.Val278fs) rs1555541304
NM_000049.4(ASPA):c.860C>T (p.Ala287Val)
NM_000049.4(ASPA):c.862T>C (p.Tyr288His)
NM_000049.4(ASPA):c.867C>A (p.Tyr289Ter) rs375736464
NM_000049.4(ASPA):c.868G>T (p.Glu290Ter)
NM_000049.4(ASPA):c.876_879del (p.Glu293fs) rs766720790
NM_000049.4(ASPA):c.884T>C (p.Phe295Ser)
NM_000049.4(ASPA):c.885dup (p.Ala296fs)
NM_000049.4(ASPA):c.892del (p.Thr298fs)
NM_000049.4(ASPA):c.896_899del (p.Thr299fs)
NM_000049.4(ASPA):c.89T>C (p.Leu30Pro) rs1555538144
NM_000049.4(ASPA):c.904dup (p.Thr302fs) rs2150764241
NM_000049.4(ASPA):c.922del (p.Ile308fs) rs1057516309
NM_000049.4(ASPA):c.924del (p.Arg309fs) rs1057517260

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