ClinVar Miner

List of variants reported as likely benign for Progressive myoclonic epilepsy

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Total variants: 34
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HGVS dbSNP
NM_000100.3(CSTB):c.12G>A (p.Gly4=) rs1555888494
NM_004287.4(GOSR2):c.*1062A>T rs16941324
NM_004287.4(GOSR2):c.*1067G>A rs11874
NM_004287.4(GOSR2):c.*1655A>G rs116123534
NM_004287.4(GOSR2):c.*2292C>T rs79673308
NM_004287.4(GOSR2):c.*2293G>A rs77706742
NM_004287.4(GOSR2):c.*2342A>G rs61745471
NM_004287.4(GOSR2):c.405C>T (p.Asn135=) rs753166413
NM_004287.4(GOSR2):c.7C>A (p.Pro3Thr) rs12944167
NM_004287.4(GOSR2):c.99A>G (p.Val33=) rs1555709339
NM_005506.4(SCARB2):c.1188-5T>C rs775387526
NM_005506.4(SCARB2):c.915G>A (p.Thr305=) rs762138695
NM_054022.4(GOSR2):c.583+344_583+352dup rs376212419
NM_153033.4(KCTD7):c.*1727G>C rs17229513
NM_153033.4(KCTD7):c.*2080A>G rs73702140
NM_153033.4(KCTD7):c.*216A>G rs77341088
NM_153033.4(KCTD7):c.*2805C>T rs1267818
NM_153033.4(KCTD7):c.*3752C>G rs73133851
NM_153033.4(KCTD7):c.*690G>C rs4718382
NM_153033.4(KCTD7):c.*708C>T rs79736939
NM_153033.4(KCTD7):c.267G>A (p.Thr89=) rs3764904
NM_153033.4(KCTD7):c.654C>T (p.Asp218=) rs117194263
NM_198859.4(PRICKLE2):c.*1277C>G rs17069880
NM_198859.4(PRICKLE2):c.*1589G>A rs62249882
NM_198859.4(PRICKLE2):c.*2447G>A rs56262708
NM_198859.4(PRICKLE2):c.*2567A>T rs62249881
NM_198859.4(PRICKLE2):c.*2724C>A rs12494731
NM_198859.4(PRICKLE2):c.*2797A>T rs35969433
NM_198859.4(PRICKLE2):c.*3333T>C rs72874609
NM_198859.4(PRICKLE2):c.*4238C>T rs14056
NM_198859.4(PRICKLE2):c.-252G>C rs142388795
NM_198859.4(PRICKLE2):c.-68G>A rs150393747
NM_198859.4(PRICKLE2):c.1551G>A (p.Gln517=) rs116353694
NM_198859.4(PRICKLE2):c.984C>T (p.Asn328=) rs34460293

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