ClinVar Miner

List of variants studied for cerebellar degeneration by GenomeConnect - Invitae Patient Insights Network

Included ClinVar conditions (265):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 47
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HGVS dbSNP gnomAD frequency
NM_182961.4(SYNE1):c.11218A>G (p.Thr3740Ala) rs144797744 0.00034
NM_014053.4(FLVCR1):c.1158T>G (p.Ile386Met) rs149834738 0.00032
NM_000051.4(ATM):c.7174C>T (p.Arg2392Trp) rs149827260 0.00030
NM_000051.4(ATM):c.7004C>T (p.Thr2335Ile) rs3092831 0.00029
NM_000051.4(ATM):c.7516A>G (p.Arg2506Gly) rs200441272 0.00019
NM_000051.4(ATM):c.8734A>G (p.Arg2912Gly) rs376676328 0.00019
NM_000051.4(ATM):c.7381C>T (p.Arg2461Cys) rs201314561 0.00017
NM_000051.4(ATM):c.9086G>A (p.Gly3029Asp) rs201199629 0.00016
NM_000051.4(ATM):c.4066A>G (p.Asn1356Asp) rs147600485 0.00014
NM_000051.4(ATM):c.8560C>T (p.Arg2854Cys) rs201958469 0.00013
NM_000051.4(ATM):c.6343G>A (p.Val2115Ile) rs587780634 0.00011
NM_182961.4(SYNE1):c.20737C>T (p.Arg6913Cys) rs142593312 0.00011
NM_000051.4(ATM):c.6475T>G (p.Cys2159Gly) rs150408832 0.00009
NM_000051.4(ATM):c.115A>G (p.Thr39Ala) rs779297339 0.00006
NM_000051.4(ATM):c.610G>A (p.Gly204Arg) rs147915571 0.00006
NM_001130823.3(DNMT1):c.3262G>A (p.Val1088Ile) rs776461147 0.00006
NM_000051.4(ATM):c.5932G>T (p.Glu1978Ter) rs587779852 0.00004
NM_000051.4(ATM):c.8968G>A (p.Glu2990Lys) rs1800558 0.00004
NM_015046.7(SETX):c.2411T>C (p.Leu804Ser) rs201096140 0.00003
NM_015046.7(SETX):c.2755G>C (p.Val919Leu) rs561190371 0.00003
NM_000051.4(ATM):c.1352G>A (p.Arg451His) rs554805703 0.00001
NM_000051.4(ATM):c.170G>A (p.Trp57Ter) rs587779818 0.00001
NM_000051.4(ATM):c.2T>C (p.Met1Thr) rs786203606 0.00001
NM_000051.4(ATM):c.3663G>A (p.Trp1221Ter) rs864622490 0.00001
NM_000051.4(ATM):c.496+3A>G rs876658311 0.00001
NM_000051.4(ATM):c.5063T>C (p.Ile1688Thr) rs199836342 0.00001
NM_000051.4(ATM):c.7463G>A (p.Cys2488Tyr) rs774281788 0.00001
NM_000051.4(ATM):c.7630-2A>C rs587779866 0.00001
NM_000051.4(ATM):c.8983C>A (p.Leu2995Ile) rs142322668 0.00001
GRCh37/hg19 11q22.3(chr11:108235811-108239828)x1
NM_000051.4(ATM):c.127C>A (p.Leu43Ile) rs772591447
NM_000051.4(ATM):c.1601C>G (p.Pro534Arg) rs587782212
NM_000051.4(ATM):c.2546T>C (p.Val849Ala) rs1555082209
NM_000051.4(ATM):c.2638+2T>C rs587779826
NM_000051.4(ATM):c.2849T>G (p.Leu950Arg) rs786203054
NM_000051.4(ATM):c.3245_3247delinsTGAT (p.His1082fs) rs587776549
NM_000051.4(ATM):c.3785G>T (p.Arg1262Ile) rs786203618
NM_000051.4(ATM):c.3802del (p.Glu1267_Val1268insTer) rs587779834
NM_000051.4(ATM):c.4643A>T (p.Asp1548Val) rs1448017467
NM_000051.4(ATM):c.5695T>C (p.Cys1899Arg) rs373213507
NM_000051.4(ATM):c.6916_6917del (p.Leu2307fs) rs878853535
NM_000051.4(ATM):c.8036_8051del (p.Asn2679fs) rs587780640
NM_000051.4(ATM):c.809G>A (p.Arg270Lys) rs587781857
NM_000051.4(ATM):c.8264A>C (p.Tyr2755Ser) rs1591199410
NM_000051.4(ATM):c.8565T>G (p.Ser2855Arg) rs780905851
NM_000051.4(ATM):c.8879G>A (p.Trp2960Ter) rs1131691149
NM_001127222.2(CACNA1A):c.4804A>G (p.Ile1602Val) rs2056444576

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