ClinVar Miner

List of variants reported as not provided for cerebellar degeneration by GenomeConnect, ClinGen

Included ClinVar conditions (265):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 35
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HGVS dbSNP gnomAD frequency
NM_000784.4(CYP27A1):c.1151C>T (p.Pro384Leu) rs41272687 0.01478
NM_014363.6(SACS):c.4466A>G (p.Asn1489Ser) rs147099630 0.00521
NM_000391.4(TPP1):c.509-1G>C rs56144125 0.00053
NM_001329943.3(KIAA0586):c.94dup (p.His32fs) rs555421894 0.00053
NM_182961.4(SYNE1):c.24827C>G (p.Ala8276Gly) rs142985368 0.00051
NM_001163809.2(WDR81):c.5582C>T (p.Pro1861Leu) rs151078477 0.00024
NM_020247.5(COQ8A):c.811C>T (p.Arg271Cys) rs145034527 0.00004
NM_153816.6(SNX14):c.1108G>T (p.Glu370Ter) rs201128942 0.00004
NM_001163809.2(WDR81):c.626C>A (p.Pro209His) rs200343855 0.00003
NM_006946.4(SPTBN2):c.3929G>A (p.Arg1310His) rs201852582 0.00002
NM_025114.4(CEP290):c.3708dup (p.Arg1237fs) rs758991387 0.00002
NM_000051.4(ATM):c.7463G>A (p.Cys2488Tyr) rs774281788 0.00001
NM_000391.4(TPP1):c.902A>C (p.Gln301Pro) rs1191799507 0.00001
NM_001278064.2(GRM1):c.1602G>A (p.Lys534=) rs775323670 0.00001
NM_001329943.3(KIAA0586):c.2932_2944+4del rs1278372009 0.00001
NM_006946.4(SPTBN2):c.6109C>T (p.Arg2037Cys) rs200529832 0.00001
NM_007289.4(MME):c.1511A>T (p.Glu504Val) rs201239248 0.00001
NM_000051.4(ATM):c.1564_1565del (p.Glu522fs) rs587779817
NM_000251.3(MSH2):c.2510C>G (p.Pro837Arg) rs1573578602
NM_001020658.2(PUM1):c.2405C>T (p.Ser802Phe) rs1640045849
NM_001127222.2(CACNA1A):c.1199A>T (p.Glu400Val) rs1600353470
NM_001127222.2(CACNA1A):c.1237C>T (p.Gln413Ter)
NM_001127222.2(CACNA1A):c.5410C>T (p.Leu1804Phe)
NM_001378452.1(ITPR1):c.4333G>A (p.Val1445Met) rs1559718601
NM_001961.4(EEF2):c.1979A>G (p.Asn660Ser) rs945307250
NM_006796.3(AFG3L2):c.1378G>A (p.Asp460Asn) rs2143165387
NM_014363.6(SACS):c.5917A>G (p.Lys1973Glu)
NM_014363.6(SACS):c.8487G>A (p.Met2829Ile) rs1566062847
NM_015215.4(CAMTA1):c.423G>C (p.Lys141Asn) rs1666321359
NM_016373.4(WWOX):c.629A>G (p.Asn210Ser) rs767929766
NM_018896.5(CACNA1G):c.1471G>T (p.Val491Phe) rs201788352
NM_020247.5(COQ8A):c.337G>T (p.Glu113Ter) rs765966679
NM_025114.4(CEP290):c.1219_1220del (p.Met407fs) rs386834148
NM_153816.6(SNX14):c.2557+1G>A rs200277996
NM_182961.4(SYNE1):c.3930_3931dup (p.His1311fs) rs1592773965

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