ClinVar Miner

List of variants reported as uncertain significance for cerebellar degeneration by Kariminejad - Najmabadi Pathology & Genetics Center

Included ClinVar conditions (276):
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Total variants: 24
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HGVS dbSNP gnomAD frequency
NM_005861.4(STUB1):c.433A>C (p.Lys145Gln) rs146251364 0.00063
NM_001127222.2(CACNA1A):c.6400C>T (p.Arg2134Cys) rs121908235 0.00007
NM_182961.4(SYNE1):c.5413C>T (p.Arg1805Trp) rs763781396 0.00003
NM_001278064.2(GRM1):c.951-6T>A rs758215901 0.00001
NM_001127222.2(CACNA1A):c.2318T>C (p.Val773Ala)
NM_002739.5(PRKCG):c.1905G>T (p.Pro635=)
NM_005861.4(STUB1):c.524+5G>C
NM_014363.6(SACS):c.10897T>G (p.Phe3633Val)
NM_014363.6(SACS):c.13469A>G (p.Tyr4490Cys)
NM_014363.6(SACS):c.13645A>G (p.Asn4549Asp) rs1178912631
NM_014363.6(SACS):c.1382C>G (p.Pro461Arg)
NM_014687.4(RUBCN):c.2507T>C (p.Phe836Ser)
NM_014889.4(PITRM1):c.2006C>T (p.Ser669Phe)
NM_015046.7(SETX):c.508T>G (p.Trp170Gly)
NM_015046.7(SETX):c.6938C>T (p.Ser2313Leu)
NM_015046.7(SETX):c.7173A>C (p.Arg2391Ser)
NM_015378.4(VPS13D):c.8951C>T (p.Pro2984Leu)
NM_018075.5(ANO10):c.1162G>A (p.Glu388Lys)
NM_144992.5(VWA3B):c.364C>T (p.Arg122Ter)
NM_144992.5(VWA3B):c.760del (p.Leu254fs)
NM_152703.5(SAMD9L):c.2308A>C (p.Lys770Gln)
NM_152703.5(SAMD9L):c.4280A>G (p.Tyr1427Cys)
NM_182961.4(SYNE1):c.7865C>T (p.Ala2622Val)
NM_198994.3(TGM6):c.1307A>T (p.Asp436Val)

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