ClinVar Miner

List of variants in gene ASPA, SPATA22 studied for Spongy degeneration of central nervous system

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Total variants: 93
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HGVS dbSNP
NC_000017.11:g.(?_3489225)_(3499098_?)del
NM_000049.3(ASPA):c.*246G>A rs769255741
NM_000049.3(ASPA):c.*27C>T rs151133430
NM_000049.3(ASPA):c.-105T>C rs886052822
NM_000049.3(ASPA):c.-152C>T rs886052821
NM_000049.3(ASPA):c.170C>T (p.Ala57Val) rs1555538148
NM_000049.3(ASPA):c.188G>C (p.Arg63Thr) rs1555538151
NM_000049.3(ASPA):c.212G>A (p.Arg71His) rs104894553
NM_000049.3(ASPA):c.236+1G>A rs1555538157
NM_000049.3(ASPA):c.237-1G>A rs1057517291
NM_000049.3(ASPA):c.237-1G>T rs1057517291
NM_000049.3(ASPA):c.237-2A>T rs780936696
NM_000049.3(ASPA):c.245T>C (p.Met82Thr) rs80099330
NM_000049.3(ASPA):c.2T>C (p.Met1Thr) rs1057516879
NM_000049.3(ASPA):c.340G>T (p.Asp114Tyr) rs1446467099
NM_000049.3(ASPA):c.427A>G (p.Ile143Val) rs199565861
NM_000049.3(ASPA):c.427A>T (p.Ile143Phe) rs199565861
NM_000049.3(ASPA):c.428T>C (p.Ile143Thr) rs777936704
NM_000049.3(ASPA):c.432G>A (p.Lys144=) rs754087904
NM_000049.3(ASPA):c.454T>C (p.Cys152Arg) rs104894548
NM_000049.3(ASPA):c.47T>C (p.Ile16Thr) rs769653717
NM_000049.3(ASPA):c.503G>A (p.Arg168His) rs770706390
NM_000049.3(ASPA):c.509T>C (p.Ile170Thr) rs144321760
NM_000049.3(ASPA):c.527-2A>C rs778385612
NM_000049.3(ASPA):c.539G>T (p.Gly180Val) rs1014551540
NM_000049.3(ASPA):c.541C>A (p.Pro181Thr) rs786204572
NM_000049.3(ASPA):c.542C>T (p.Pro181Leu) rs1335267315
NM_000049.3(ASPA):c.548C>A (p.Pro183His) rs1555539857
NM_000049.3(ASPA):c.550C>T (p.Gln184Ter) rs1597439028
NM_000049.3(ASPA):c.604G>C (p.Ala202Pro) rs147763700
NM_000049.3(ASPA):c.640G>T (p.Glu214Ter) rs1057516416
NM_000049.3(ASPA):c.654C>A (p.Cys218Ter) rs104894549
NM_000049.3(ASPA):c.692A>G (p.Tyr231Cys) rs104894550
NM_000049.3(ASPA):c.693C>T (p.Tyr231=) rs12948217
NM_000049.3(ASPA):c.731A>G (p.His244Arg) rs1057516995
NM_000049.3(ASPA):c.745-1G>A rs1555541278
NM_000049.3(ASPA):c.745-2A>G rs1057517066
NM_000049.3(ASPA):c.746A>T (p.Asp249Val) rs104894552
NM_000049.3(ASPA):c.770C>G (p.Pro257Arg) rs377217076
NM_000049.3(ASPA):c.788T>C (p.Leu263Ser) rs755061005
NM_000049.3(ASPA):c.79G>A (p.Gly27Arg) rs766328537
NM_000049.3(ASPA):c.807G>A (p.Thr269=) rs759106494
NM_000049.3(ASPA):c.820G>A (p.Gly274Arg) rs761064915
NM_000049.3(ASPA):c.831C>T (p.Thr277=) rs78677072
NM_000049.3(ASPA):c.838C>T (p.Pro280Ser) rs750505963
NM_000049.3(ASPA):c.839C>T (p.Pro280Leu) rs1555541310
NM_000049.3(ASPA):c.859G>A (p.Ala287Thr) rs774323189
NM_000049.3(ASPA):c.867C>A (p.Tyr289Ter) rs375736464
NM_000049.3(ASPA):c.89T>C (p.Leu30Pro) rs1555538144
NM_000049.3(ASPA):c.905C>T (p.Thr302Met) rs763869261
NM_000049.3(ASPA):c.906G>A (p.Thr302=) rs371394875
NM_000049.3(ASPA):c.927C>T (p.Arg309=) rs749049390
NM_000049.3(ASPA):c.935T>G (p.Leu312Ter) rs1555541343
NM_000049.4(ASPA):c.147dup (p.Pro50fs) rs1597422432
NM_000049.4(ASPA):c.162C>A (p.Asn54Lys)
NM_000049.4(ASPA):c.236+2T>C
NM_000049.4(ASPA):c.237-6T>C rs370219865
NM_000049.4(ASPA):c.309dup (p.Asp104fs)
NM_000049.4(ASPA):c.328G>C (p.Asp110His)
NM_000049.4(ASPA):c.3G>T (p.Met1Ile) rs1597422213
NM_000049.4(ASPA):c.437_449del (p.Ser146fs)
NM_000049.4(ASPA):c.502C>T (p.Arg168Cys) rs937670540
NM_000049.4(ASPA):c.530T>C (p.Ile177Thr) rs1597438977
NM_000049.4(ASPA):c.580C>T (p.Gln194Ter)
NM_000049.4(ASPA):c.609del (p.Asp204fs) rs1597439149
NM_000049.4(ASPA):c.634+1G>T rs753871454
NM_000049.4(ASPA):c.693C>A (p.Tyr231Ter) rs12948217
NM_000049.4(ASPA):c.731A>C (p.His244Pro)
NM_000049.4(ASPA):c.740T>C (p.Leu247Pro)
NM_000049.4(ASPA):c.744+1G>A
NM_000049.4(ASPA):c.854A>C (p.Glu285Ala) rs28940279
NM_000049.4(ASPA):c.914C>A (p.Ala305Glu) rs28940574
NM_000049.4(ASPA):c.941A>G (p.Ter314Trp)
NM_001321336.1(SPATA22):c.-73-12212dup rs756198538
NM_001321336.1(SPATA22):c.-73-12213_-73-12212del rs786204620
NM_001321336.1(SPATA22):c.-73-12213del rs1057516962
NM_001321336.1(SPATA22):c.-73-12350del rs1555538825
NM_001321336.1(SPATA22):c.-73-14183_-73-14182dup rs1555539105
NM_001321336.1(SPATA22):c.-73-19863del rs1567614635
NM_001321336.1(SPATA22):c.-73-19929_-73-19921del rs1555539888
NM_001321336.1(SPATA22):c.-73-19934del rs1555539897
NM_001321336.1(SPATA22):c.-73-6793del rs767666474
NM_001321336.1(SPATA22):c.-73-6832T>C rs104894551
NM_001321336.1(SPATA22):c.-74+14343del rs1057517260
NM_001321336.1(SPATA22):c.-74+14344del rs1057516309
NM_001321336.1(SPATA22):c.-74+14389_-74+14391del rs1555541321
NM_001321336.1(SPATA22):c.-74+14393_-74+14396del rs766720790
NM_001321336.1(SPATA22):c.-74+14436del rs1555541304
NM_001321336.1(SPATA22):c.-74+14439_-74+14440del rs1057517085
NM_001321336.1(SPATA22):c.-74+14470dup rs1555541291
NM_001321336.1(SPATA22):c.-74+19004del rs1057516315
NM_001321336.1(SPATA22):c.-74+19016_-74+19019del rs1555540674
NM_001321336.1(SPATA22):c.-74+19047_-74+19048del rs1057516498

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