ClinVar Miner

List of variants reported as likely benign for Spongy degeneration of central nervous system

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Minimum conflict level:
ClinVar version:
Total variants: 168
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HGVS dbSNP gnomAD frequency
NM_000049.4(ASPA):c.245T>C (p.Met82Thr) rs80099330 0.00394
NM_000049.4(ASPA):c.279T>C (p.Ala93=) rs144639820 0.00048
NM_000049.4(ASPA):c.10T>C (p.Cys4Arg) rs142041344 0.00031
NM_000049.4(ASPA):c.832G>A (p.Val278Met) rs140581464 0.00028
NM_000049.4(ASPA):c.621T>C (p.His207=) rs369805590 0.00020
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.841G>A (p.Val281Met) rs141858640 0.00010
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.459C>T (p.Tyr153=) rs141755746 0.00008
NM_000049.4(ASPA):c.858C>T (p.Ala286=) rs138062143 0.00008
NM_000049.4(ASPA):c.912T>C (p.Asn304=) rs750991168 0.00008
NM_000049.4(ASPA):c.927C>T (p.Arg309=) rs749049390 0.00006
NM_000049.4(ASPA):c.840C>T (p.Pro280=) rs148081446 0.00005
NM_000049.4(ASPA):c.303T>A (p.Gly101=) rs999563868 0.00003
NM_000049.4(ASPA):c.114C>T (p.Gly38=) rs767049011 0.00002
NM_000049.4(ASPA):c.369G>A (p.Gly123=) rs768152290 0.00002
NM_000049.4(ASPA):c.115G>A (p.Ala39Thr) rs544167597 0.00001
NM_000049.4(ASPA):c.166A>C (p.Arg56=) rs758502972 0.00001
NM_000049.4(ASPA):c.324C>T (p.Ser108=) rs1032323308 0.00001
NM_000049.4(ASPA):c.372C>T (p.Cys124=) rs1278404446 0.00001
NM_000049.4(ASPA):c.432+8T>C rs1348671675 0.00001
NM_000049.4(ASPA):c.448C>T (p.Leu150=) rs1597432362 0.00001
NM_000049.4(ASPA):c.483C>T (p.Ser161=) rs748149345 0.00001
NM_000049.4(ASPA):c.513C>T (p.Ala171=) rs1193959233 0.00001
NM_000049.4(ASPA):c.519T>C (p.Tyr173=) rs1459390009 0.00001
NM_000049.4(ASPA):c.526+9T>C rs1392070781 0.00001
NM_000049.4(ASPA):c.603T>C (p.His201=) rs769947909 0.00001
NM_000049.4(ASPA):c.612T>C (p.Asp204=) rs767152579 0.00001
NM_000049.4(ASPA):c.630T>C (p.Asn210=) rs1173352103 0.00001
NM_000049.4(ASPA):c.637A>G (p.Lys213Glu) rs528179434 0.00001
NM_000049.4(ASPA):c.807G>A (p.Thr269=) rs759106494 0.00001
NM_000049.4(ASPA):c.819C>T (p.Gly273=) rs752336086 0.00001
NM_000049.4(ASPA):c.843G>C (p.Val281=) rs747218271 0.00001
NM_000049.4(ASPA):c.852T>C (p.Asn284=) rs370915844 0.00001
NM_000049.4(ASPA):c.861A>G (p.Ala287=) rs759018576 0.00001
NM_000049.4(ASPA):c.867C>T (p.Tyr289=) rs375736464 0.00001
NM_000049.4(ASPA):c.111T>C (p.Asn37=) rs2150741777
NM_000049.4(ASPA):c.132A>G (p.Thr44=)
NM_000049.4(ASPA):c.138G>A (p.Leu46=)
NM_000049.4(ASPA):c.141G>A (p.Glu47=) rs2150741793
NM_000049.4(ASPA):c.150A>G (p.Pro50=) rs763718422
NM_000049.4(ASPA):c.15C>T (p.His5=) rs749703107
NM_000049.4(ASPA):c.168A>G (p.Arg56=)
NM_000049.4(ASPA):c.171A>G (p.Ala57=) rs1301668898
NM_000049.4(ASPA):c.171A>T (p.Ala57=)
NM_000049.4(ASPA):c.192T>C (p.Tyr64=)
NM_000049.4(ASPA):c.198C>T (p.Asp66=)
NM_000049.4(ASPA):c.213C>G (p.Arg71=) rs2150741906
NM_000049.4(ASPA):c.236+13T>G
NM_000049.4(ASPA):c.236+17T>C
NM_000049.4(ASPA):c.236+9A>G rs2073523852
NM_000049.4(ASPA):c.237-15T>C
NM_000049.4(ASPA):c.237-6T>A rs370219865
NM_000049.4(ASPA):c.237-8T>C rs2150746640
NM_000049.4(ASPA):c.276G>A (p.Arg92=) rs776297759
NM_000049.4(ASPA):c.291T>C (p.Asn97=) rs1018556148
NM_000049.4(ASPA):c.303T>C (p.Gly101=) rs999563868
NM_000049.4(ASPA):c.309A>G (p.Lys103=)
NM_000049.4(ASPA):c.30T>C (p.His10=) rs779344515
NM_000049.4(ASPA):c.312C>T (p.Asp104=) rs2150746751
NM_000049.4(ASPA):c.315T>C (p.Ser105=) rs866030859
NM_000049.4(ASPA):c.330C>T (p.Asp110=)
NM_000049.4(ASPA):c.342C>T (p.Asp114=) rs2150746796
NM_000049.4(ASPA):c.363C>T (p.Asn121=) rs1433835279
NM_000049.4(ASPA):c.369G>T (p.Gly123=) rs768152290
NM_000049.4(ASPA):c.36A>G (p.Gln12=) rs2150741671
NM_000049.4(ASPA):c.375T>C (p.Thr125=)
NM_000049.4(ASPA):c.393C>G (p.Ser131=) rs2150746884
NM_000049.4(ASPA):c.396G>A (p.Arg132=) rs766883736
NM_000049.4(ASPA):c.402C>T (p.Asn134=) rs2150746901
NM_000049.4(ASPA):c.408A>G (p.Leu136=)
NM_000049.4(ASPA):c.426C>T (p.Tyr142=) rs1380839164
NM_000049.4(ASPA):c.432+10A>G
NM_000049.4(ASPA):c.432+12G>A
NM_000049.4(ASPA):c.432+13T>C
NM_000049.4(ASPA):c.432+7T>G
NM_000049.4(ASPA):c.433-12G>T
NM_000049.4(ASPA):c.433-18G>A
NM_000049.4(ASPA):c.433-19C>T
NM_000049.4(ASPA):c.433-19_433-18dup
NM_000049.4(ASPA):c.433-5T>C rs2150748578
NM_000049.4(ASPA):c.433-8T>C
NM_000049.4(ASPA):c.433-9T>A rs2150748576
NM_000049.4(ASPA):c.438T>C (p.Ser146=) rs1481780158
NM_000049.4(ASPA):c.439C>T (p.Leu147=)
NM_000049.4(ASPA):c.444T>C (p.Ala148=)
NM_000049.4(ASPA):c.447A>G (p.Pro149=) rs760702576
NM_000049.4(ASPA):c.45T>C (p.Ala15=) rs2150741682
NM_000049.4(ASPA):c.489A>G (p.Lys163=)
NM_000049.4(ASPA):c.48C>A (p.Ile16=) rs2150741691
NM_000049.4(ASPA):c.492T>C (p.Tyr164=) rs2150748665
NM_000049.4(ASPA):c.498C>T (p.Thr166=)
NM_000049.4(ASPA):c.507C>T (p.Ser169=)
NM_000049.4(ASPA):c.526+16del
NM_000049.4(ASPA):c.527-12T>C
NM_000049.4(ASPA):c.527-14C>T
NM_000049.4(ASPA):c.527-18C>T
NM_000049.4(ASPA):c.527-20A>G
NM_000049.4(ASPA):c.527-7T>C
NM_000049.4(ASPA):c.528T>G (p.Gly176=) rs2073778875
NM_000049.4(ASPA):c.534A>G (p.Glu178=)
NM_000049.4(ASPA):c.540T>A (p.Gly180=)
NM_000049.4(ASPA):c.540T>C (p.Gly180=) rs1203013371
NM_000049.4(ASPA):c.567T>A (p.Ala189=) rs2150753579
NM_000049.4(ASPA):c.573C>T (p.Ile191=) rs2073780121
NM_000049.4(ASPA):c.57A>C (p.Gly19=) rs1597422312
NM_000049.4(ASPA):c.582A>G (p.Gln194=)
NM_000049.4(ASPA):c.600A>G (p.Lys200=) rs1567614678
NM_000049.4(ASPA):c.606T>A (p.Ala202=) rs1567614696
NM_000049.4(ASPA):c.606T>G (p.Ala202=) rs1567614696
NM_000049.4(ASPA):c.634+10_634+12del
NM_000049.4(ASPA):c.634+18del
NM_000049.4(ASPA):c.634+8A>G rs778496275
NM_000049.4(ASPA):c.635-10T>C
NM_000049.4(ASPA):c.635-13G>C
NM_000049.4(ASPA):c.635-14T>C
NM_000049.4(ASPA):c.635-15T>C
NM_000049.4(ASPA):c.635-17T>G
NM_000049.4(ASPA):c.635-18del
NM_000049.4(ASPA):c.63T>C (p.His21=)
NM_000049.4(ASPA):c.645T>C (p.Phe215=)
NM_000049.4(ASPA):c.654C>T (p.Cys218=) rs104894549
NM_000049.4(ASPA):c.693C>T (p.Tyr231=) rs12948217
NM_000049.4(ASPA):c.699G>C (p.Arg233=) rs1347989264
NM_000049.4(ASPA):c.708T>C (p.Asn236=)
NM_000049.4(ASPA):c.723T>C (p.Ala241=) rs2073877008
NM_000049.4(ASPA):c.732T>C (p.His244=)
NM_000049.4(ASPA):c.739C>T (p.Leu247=) rs1388861947
NM_000049.4(ASPA):c.744+11T>C
NM_000049.4(ASPA):c.744+12T>C
NM_000049.4(ASPA):c.744+15T>C
NM_000049.4(ASPA):c.744+17C>G
NM_000049.4(ASPA):c.744+17_744+20del
NM_000049.4(ASPA):c.744+18T>C
NM_000049.4(ASPA):c.744+8T>C
NM_000049.4(ASPA):c.745-11T>C
NM_000049.4(ASPA):c.745-14T>C
NM_000049.4(ASPA):c.745-15A>G
NM_000049.4(ASPA):c.745-16G>T
NM_000049.4(ASPA):c.745-17T>C
NM_000049.4(ASPA):c.745-6T>G
NM_000049.4(ASPA):c.759A>G (p.Lys253=)
NM_000049.4(ASPA):c.75A>G (p.Leu25=)
NM_000049.4(ASPA):c.771T>C (p.Pro257=)
NM_000049.4(ASPA):c.787T>C (p.Leu263=)
NM_000049.4(ASPA):c.798T>C (p.Asp266=)
NM_000049.4(ASPA):c.806C>T (p.Thr269Met) rs773849106
NM_000049.4(ASPA):c.819C>A (p.Gly273=) rs752336086
NM_000049.4(ASPA):c.81A>G (p.Gly27=) rs1750629877
NM_000049.4(ASPA):c.831C>A (p.Thr277=) rs78677072
NM_000049.4(ASPA):c.831C>G (p.Thr277=) rs78677072
NM_000049.4(ASPA):c.834G>A (p.Val278=) rs1280988827
NM_000049.4(ASPA):c.843G>A (p.Val281=)
NM_000049.4(ASPA):c.84A>G (p.Val28=) rs2150741742
NM_000049.4(ASPA):c.858C>A (p.Ala286=)
NM_000049.4(ASPA):c.864T>C (p.Tyr288=) rs2150764197
NM_000049.4(ASPA):c.879A>G (p.Glu293=)
NM_000049.4(ASPA):c.87T>C (p.Phe29=)
NM_000049.4(ASPA):c.882T>G (p.Ala294=)
NM_000049.4(ASPA):c.88C>T (p.Leu30=) rs2073520755
NM_000049.4(ASPA):c.909C>A (p.Leu303=) rs762310899
NM_000049.4(ASPA):c.909C>T (p.Leu303=)
NM_000049.4(ASPA):c.921T>C (p.Ser307=)
NM_000049.4(ASPA):c.924T>A (p.Ile308=)
NM_000049.4(ASPA):c.99T>C (p.His33=) rs1597422394

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