ClinVar Miner

List of variants reported as likely benign for Unverricht-Lundborg syndrome by Invitae

Included ClinVar conditions (3):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 60
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HGVS dbSNP
NM_000100.3(CSTB):c.121G>A (p.Val41Met) rs143153487
NM_000100.3(CSTB):c.12G>A (p.Gly4=) rs1555888494
NM_000100.3(CSTB):c.27G>C (p.Thr9=) rs945357152
NM_000100.3(CSTB):c.45G>A (p.Glu15=) rs1057521317
NM_000100.3(CSTB):c.54C>T (p.His18=) rs557717323
NM_004287.4(GOSR2):c.17A>G (p.Gln6Arg) rs749270151
NM_004287.4(GOSR2):c.29+8C>T rs573306680
NM_004287.4(GOSR2):c.322A>C (p.Thr108Pro) rs138510884
NM_004287.4(GOSR2):c.336+9G>A rs200210055
NM_004287.4(GOSR2):c.369A>G (p.Ser123=) rs150381512
NM_004287.4(GOSR2):c.405C>T (p.Asn135=) rs753166413
NM_004287.4(GOSR2):c.40G>A (p.Glu14Lys) rs113817924
NM_004287.4(GOSR2):c.447T>C (p.Asp149=) rs750298260
NM_004287.4(GOSR2):c.72G>A (p.Thr24=) rs145772886
NM_004287.4(GOSR2):c.95-6G>T rs1345182096
NM_004287.4(GOSR2):c.99A>G (p.Val33=) rs1555709339
NM_005506.4(SCARB2):c.1188-5T>C rs775387526
NM_005506.4(SCARB2):c.1407G>A (p.Ala469=) rs144878666
NM_005506.4(SCARB2):c.228C>T (p.Leu76=) rs35069772
NM_005506.4(SCARB2):c.276-7C>G rs200507087
NM_005506.4(SCARB2):c.303A>G (p.Gln101=) rs1242165140
NM_005506.4(SCARB2):c.33G>T (p.Thr11=) rs774721226
NM_005506.4(SCARB2):c.382C>G (p.Pro128Ala) rs143558324
NM_005506.4(SCARB2):c.424-4G>A rs368869126
NM_005506.4(SCARB2):c.424-5C>T rs192876326
NM_005506.4(SCARB2):c.445G>A (p.Val149Met) rs147159813
NM_005506.4(SCARB2):c.486C>T (p.Ala162=) rs143518519
NM_005506.4(SCARB2):c.567T>C (p.His189=) rs141208366
NM_005506.4(SCARB2):c.580G>A (p.Asp194Asn) rs773017713
NM_005506.4(SCARB2):c.690A>G (p.Glu230=) rs957776724
NM_005506.4(SCARB2):c.915G>A (p.Thr305=) rs762138695
NM_005670.4(EPM2A):c.129C>G (p.Ala43=) rs547147183
NM_005670.4(EPM2A):c.171G>T (p.Pro57=) rs531330673
NM_005670.4(EPM2A):c.210G>A (p.Glu70=) rs878854780
NM_005670.4(EPM2A):c.345C>T (p.Asn115=) rs764231649
NM_005670.4(EPM2A):c.681C>T (p.Ala227=) rs61758156
NM_005670.4(EPM2A):c.722G>A (p.Arg241Gln) rs146321088
NM_005670.4(EPM2A):c.849T>C (p.Tyr283=) rs142027344
NM_005670.4(EPM2A):c.876G>A (p.Val292=) rs774234576
NM_005670.4(EPM2A):c.975T>C (p.Arg325=) rs370469632
NM_153026.3(PRICKLE1):c.113C>T (p.Pro38Leu) rs145493619
NM_153026.3(PRICKLE1):c.1284T>C (p.Phe428=) rs183742526
NM_153026.3(PRICKLE1):c.1640-7C>T rs1555229472
NM_153026.3(PRICKLE1):c.1686T>G (p.Ser562=) rs955717976
NM_153026.3(PRICKLE1):c.1989T>C (p.Phe663=) rs1555229340
NM_153026.3(PRICKLE1):c.198G>A (p.Lys66=) rs1256250717
NM_153026.3(PRICKLE1):c.2064T>C (p.Asn688=) rs199893979
NM_153026.3(PRICKLE1):c.2071A>G (p.Thr691Ala) rs149496604
NM_153026.3(PRICKLE1):c.2194G>A (p.Gly732Arg) rs150287042
NM_153026.3(PRICKLE1):c.2404C>T (p.Pro802Ser) rs150545495
NM_153026.3(PRICKLE1):c.2439G>A (p.Arg813=) rs138524511
NM_153026.3(PRICKLE1):c.249A>G (p.Val83=) rs763029790
NM_153026.3(PRICKLE1):c.276G>A (p.Glu92=) rs1555230725
NM_153026.3(PRICKLE1):c.423C>T (p.Phe141=) rs746728526
NM_153026.3(PRICKLE1):c.444T>G (p.Gly148=) rs1060504780
NM_153026.3(PRICKLE1):c.471C>T (p.Val157=) rs201613485
NM_153026.3(PRICKLE1):c.480G>A (p.Thr160=) rs376385820
NM_153026.3(PRICKLE1):c.498C>G (p.Val166=) rs1555230606
NM_153026.3(PRICKLE1):c.861T>C (p.Ser287=) rs537302175
NM_153026.3(PRICKLE1):c.954C>T (p.Ser318=) rs139421676

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