ClinVar Miner

List of variants reported as uncertain significance for cerebellar disorder by Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago

Included ClinVar conditions (274):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 23
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HGVS dbSNP gnomAD frequency
NM_152703.5(SAMD9L):c.1216C>T (p.Arg406Ter) rs150070697 0.00229
NM_007254.4(PNKP):c.416G>A (p.Arg139His) rs34472250 0.00185
NM_000391.4(TPP1):c.14C>A (p.Ala5Asp) rs138976576 0.00133
NM_000391.4(TPP1):c.1241A>T (p.Asn414Ile) rs146798796 0.00051
NM_152703.5(SAMD9L):c.2069G>A (p.Gly690Asp) rs147903234 0.00041
NM_000391.4(TPP1):c.7C>A (p.Leu3Ile) rs142163063 0.00025
NM_001127222.2(CACNA1A):c.3227C>T (p.Ala1076Val) rs199512932 0.00024
NM_006796.3(AFG3L2):c.2167G>A (p.Val723Met) rs139469785 0.00024
NM_000391.4(TPP1):c.1425G>A (p.Ser475=) rs779333902 0.00005
NM_000059.4(BRCA2):c.6013G>T (p.Asp2005Tyr) rs587781760 0.00002
NM_016373.4(WWOX):c.517-108243C>T rs551189075 0.00002
NM_152296.5(ATP1A3):c.1176C>T (p.Thr392=) rs1353417724 0.00002
NM_152617.4(RNF168):c.237A>G (p.Ile79Met) rs148808853 0.00001
NM_000391.4(TPP1):c.1243G>A (p.Val415Met) rs2134591998
NM_001127222.2(CACNA1A):c.2088G>A (p.Leu696=) rs908321451
NM_001127222.2(CACNA1A):c.3085A>G (p.Arg1029Gly)
NM_001127222.2(CACNA1A):c.6271G>A (p.Ala2091Thr)
NM_001127222.2(CACNA1A):c.7266_7271del (p.Ser2423_Gly2424del) rs775428832
NM_007254.4(PNKP):c.1360C>A (p.Leu454Met) rs200611702
NM_152296.5(ATP1A3):c.1192+7G>A rs374826826
NM_152617.4(RNF168):c.1591_1594dup (p.Asn532delinsSerTer) rs751867784
NM_152703.5(SAMD9L):c.1096T>C (p.Phe366Leu)
NM_182961.4(SYNE1):c.-224+1G>A

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