ClinVar Miner

List of variants reported as likely pathogenic for cerebellar disorder by Centre for Mendelian Genomics, University Medical Centre Ljubljana

Included ClinVar conditions (275):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 20
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HGVS dbSNP gnomAD frequency
NM_007254.4(PNKP):c.1029+2T>C rs199919568 0.00115
NM_001166114.2(PNPLA6):c.4045C>T (p.Arg1349Trp) rs374434303 0.00006
NM_003172.4(SURF1):c.751+5G>A rs781934508 0.00003
NM_000784.4(CYP27A1):c.1420C>T (p.Arg474Trp) rs121908098 0.00001
NM_001127222.2(CACNA1A):c.574C>T (p.Arg192Trp) rs1057518779 0.00001
NM_015166.4(MLC1):c.178-10T>A rs80358243 0.00001
NM_015272.5(RPGRIP1L):c.1804C>T (p.Arg602Ter) rs745413543 0.00001
NM_015272.5(RPGRIP1L):c.751C>T (p.Arg251Ter) rs993394322 0.00001
NM_016529.6(ATP8A2):c.1058-2A>G rs1304832284 0.00001
NM_198525.3(KIF7):c.434A>C (p.Tyr145Ser) rs758361736 0.00001
NM_001166114.2(PNPLA6):c.898C>G (p.Pro300Ala) rs1057518936
NM_004056.6(CA8):c.730dup (p.Gln244fs) rs1807291595
NM_004408.4(DNM1):c.139G>A (p.Val47Met) rs869312702
NM_006772.3(SYNGAP1):c.3200del (p.Pro1067fs) rs1057518796
NM_015272.5(RPGRIP1L):c.2560C>T (p.Arg854Ter) rs770291169
NM_016529.6(ATP8A2):c.210del (p.Asp70fs) rs2035763126
NM_025114.4(CEP290):c.3894dup (p.Lys1299Ter) rs761907569
NM_153816.6(SNX14):c.1300C>T (p.Gln434Ter) rs1784370895
NM_182961.4(SYNE1):c.12009dup (p.Gln4004fs) rs2096651533
NM_182961.4(SYNE1):c.888+2T>A rs754518742

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