ClinVar Miner

List of variants reported as likely pathogenic for cerebellar disorder by Mendelics

Included ClinVar conditions (275):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 19
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HGVS dbSNP gnomAD frequency
NM_014053.4(FLVCR1):c.1092+5G>A rs556788423 0.00032
NM_000784.4(CYP27A1):c.1181T>C (p.Leu394Pro) rs1406298698 0.00001
NM_014363.6(SACS):c.3391C>T (p.Leu1131Phe) rs139805032 0.00001
NM_014363.6(SACS):c.562G>A (p.Gly188Arg) rs780184251 0.00001
NM_000370.3(TTPA):c.172G>C (p.Ala58Pro) rs982650476
NM_000784.4(CYP27A1):c.1052T>G (p.Leu351Arg) rs1470602732
NM_001080522.2(CC2D2A):c.[4093_4095delGAA];[4595_4596delCT]
NM_001130823.3(DNMT1):c.4641G>T (p.Glu1547Asp) rs2145253354
NM_001134831.2(AHI1):c.1205del (p.Pro402fs) rs794729195
NM_001940.4(ATN1):c.3182TGCACC[3] (p.1061LH[3]) rs2138219961
NM_002739.5(PRKCG):c.230G>A (p.Cys77Tyr) rs1599938631
NM_002739.5(PRKCG):c.367G>C (p.Gly123Arg) rs386134164
NM_002739.5(PRKCG):c.379C>A (p.Gln127Lys) rs1599943097
NM_014363.6(SACS):c.3589T>C (p.Ser1197Pro) rs727503785
NM_015046.7(SETX):c.6017G>A (p.Cys2006Tyr) rs200154603
NM_016529.6(ATP8A2):c.1761dup (p.Arg588fs) rs1156904586
NM_018294.6(CWF19L1):c.187+1G>T rs1330992740
NM_022464.5(SIL1):c.158_159del (p.Arg53fs)
NM_032856.5(WDR73):c.710dup (p.Gly238fs) rs1282630153

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