ClinVar Miner

List of variants in gene combination ASPA, SPATA22 reported as pathogenic for Canavan disease

Included ClinVar conditions (2):
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Gene type:
ClinVar version:
Total variants: 79
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HGVS dbSNP gnomAD frequency
NM_000049.4(ASPA):c.509T>C (p.Ile170Thr) rs144321760 0.00071
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.914C>A (p.Ala305Glu) rs28940574 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.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.426C>A (p.Tyr142Ter) rs1380839164 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.634+1G>T rs753871454 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
NC_000017.11:g.(?_3489225)_(3499098_?)del
NM_000049.4(ASPA):c.101G>A (p.Trp34Ter) rs2150741763
NM_000049.4(ASPA):c.102G>A (p.Trp34Ter)
NM_000049.4(ASPA):c.10delinsGG (p.Cys4fs)
NM_000049.4(ASPA):c.124C>T (p.Gln42Ter) rs2150741788
NM_000049.4(ASPA):c.147dup (p.Pro50fs) rs1597422432
NM_000049.4(ASPA):c.158del (p.Thr53fs)
NM_000049.4(ASPA):c.169G>A (p.Ala57Thr)
NM_000049.4(ASPA):c.209A>G (p.Asn70Ser)
NM_000049.4(ASPA):c.20_205del (p.Ala7_Leu69delinsVal)
NM_000049.4(ASPA):c.230dup (p.Asn77fs) rs2150741916
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.25G>T (p.Glu9Ter)
NM_000049.4(ASPA):c.264T>A (p.Tyr88Ter)
NM_000049.4(ASPA):c.27dup (p.His10fs) rs2150741648
NM_000049.4(ASPA):c.283G>T (p.Glu95Ter)
NM_000049.4(ASPA):c.291del (p.His98fs)
NM_000049.4(ASPA):c.309dup (p.Asp104fs) rs1209227358
NM_000049.4(ASPA):c.321_322del (p.Ser108fs) rs1289890879
NM_000049.4(ASPA):c.325_328dup (p.Asp110delinsValTer)
NM_000049.4(ASPA):c.32del (p.Ile11fs) rs767666474
NM_000049.4(ASPA):c.340G>T (p.Asp114Tyr) rs1446467099
NM_000049.4(ASPA):c.342C>A (p.Asp114Glu) rs2150746796
NM_000049.4(ASPA):c.347_348insAA (p.His116fs)
NM_000049.4(ASPA):c.34C>T (p.Gln12Ter) rs2150741666
NM_000049.4(ASPA):c.34_46del (p.Gln12fs)
NM_000049.4(ASPA):c.358_361del (p.Ser120fs)
NM_000049.4(ASPA):c.3G>A (p.Met1Ile)
NM_000049.4(ASPA):c.434del (p.Thr145fs)
NM_000049.4(ASPA):c.437_449del (p.Ser146fs) rs2073669074
NM_000049.4(ASPA):c.454T>C (p.Cys152Arg) rs104894548
NM_000049.4(ASPA):c.456_459del (p.Cys152fs)
NM_000049.4(ASPA):c.502C>T (p.Arg168Cys) rs937670540
NM_000049.4(ASPA):c.526G>A (p.Gly176Ser) rs2150748728
NM_000049.4(ASPA):c.530T>C (p.Ile177Thr) rs1597438977
NM_000049.4(ASPA):c.530_634+3del
NM_000049.4(ASPA):c.532_533dup (p.Val179fs)
NM_000049.4(ASPA):c.541C>A (p.Pro181Thr) rs786204572
NM_000049.4(ASPA):c.548C>A (p.Pro183His) rs1555539857
NM_000049.4(ASPA):c.550C>T (p.Gln184Ter) rs1597439028
NM_000049.4(ASPA):c.557T>A (p.Val186Asp)
NM_000049.4(ASPA):c.577del (p.Asp193fs)
NM_000049.4(ASPA):c.580C>T (p.Gln194Ter) rs1482032907
NM_000049.4(ASPA):c.609del (p.Asp204fs) rs1597439149
NM_000049.4(ASPA):c.610G>C (p.Asp204His)
NM_000049.4(ASPA):c.634+1G>A
NM_000049.4(ASPA):c.635-1G>C
NM_000049.4(ASPA):c.654C>A (p.Cys218Ter) rs104894549
NM_000049.4(ASPA):c.692A>G (p.Tyr231Cys) rs104894550
NM_000049.4(ASPA):c.693C>A (p.Tyr231Ter) rs12948217
NM_000049.4(ASPA):c.71A>G (p.Glu24Gly) rs104894551
NM_000049.4(ASPA):c.734del (p.Pro245fs)
NM_000049.4(ASPA):c.744+1G>A rs2073877472
NM_000049.4(ASPA):c.80del (p.Gly27fs)
NM_000049.4(ASPA):c.827_828del (p.Cys276fs) rs1057517085
NM_000049.4(ASPA):c.831del (p.Val278fs) rs1555541304
NM_000049.4(ASPA):c.876_879del (p.Glu293fs) rs766720790
NM_000049.4(ASPA):c.877_878del (p.Glu293fs) rs2150764223
NM_000049.4(ASPA):c.885dup (p.Ala296fs)
NM_000049.4(ASPA):c.88C>G (p.Leu30Val)

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