ClinVar Miner

List of variants studied for autosomal recessive metabolic cerebellar ataxia by OMIM

Included ClinVar conditions (8):
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ClinVar version:
Total variants: 45
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HGVS dbSNP gnomAD frequency
NM_000784.4(CYP27A1):c.1183C>T (p.Arg395Cys) rs121908096 0.00031
NM_000784.4(CYP27A1):c.1016C>T (p.Thr339Met) rs121908102 0.00013
NM_000784.4(CYP27A1):c.845-1G>A rs397515353 0.00004
NM_001386140.1(MTTP):c.1619G>A (p.Arg540His) rs199422220 0.00004
NM_001386140.1(MTTP):c.2593G>T (p.Gly865Ter) rs146064714 0.00004
NM_000784.4(CYP27A1):c.1263+1G>A rs397515355 0.00003
NM_000784.4(CYP27A1):c.1421G>A (p.Arg474Gln) rs121908097 0.00003
NM_000384.3(APOB):c.11712del (p.Asn3904fs) rs587776852 0.00001
NM_000384.3(APOB):c.6253C>T (p.Arg2085Ter) rs121918386 0.00001
NM_000384.3(APOB):c.7564C>T (p.Arg2522Ter) rs121918390 0.00001
NM_000784.4(CYP27A1):c.1214G>A (p.Arg405Gln) rs121908099 0.00001
NM_000784.4(CYP27A1):c.1420C>T (p.Arg474Trp) rs121908098 0.00001
NM_001386140.1(MTTP):c.1783C>T (p.Arg595Ter) rs199422219 0.00001
NM_001386140.1(MTTP):c.1867+5G>A rs1429774833 0.00001
APOB, 1-BP DEL, 4432T
APOB, EX21DEL
NC_000004.12:g.92491792_92826931del
NC_000004.12:g.92559959_92610106del
NC_000004.12:g.93013415_93157863del
NM_000384.2(APOB):c.11905del rs387906569
NM_000384.3(APOB):c.12181del (p.Glu4061fs) rs121918385
NM_000384.3(APOB):c.3997C>T (p.Arg1333Ter) rs121918383
NM_000384.3(APOB):c.4352del (p.Gly1451fs) rs397514256
NM_000384.3(APOB):c.4429C>T (p.Gln1477Ter) rs121918389
NM_000384.3(APOB):c.5263_5266del (p.Asn1755fs) rs281865425
NM_000384.3(APOB):c.5463del (p.His1822fs) rs397514255
NM_000384.3(APOB):c.5566_5567del (p.Val1856fs) rs121918384
NM_000384.3(APOB):c.819-2A>G rs1572800245
NM_000384.3(APOB):c.905-1_905dup rs606231236
NM_000384.3(APOB):c.9200del (p.Lys3067fs) rs121918387
NM_000784.4(CYP27A1):c.1183C>A (p.Arg395Ser) rs121908096
NM_000784.4(CYP27A1):c.1435C>G (p.Arg479Gly) rs72551322
NM_000784.4(CYP27A1):c.1435C>T (p.Arg479Cys) rs72551322
NM_000784.4(CYP27A1):c.434G>A (p.Gly145Glu) rs72551313
NM_000784.4(CYP27A1):c.844+1G>A rs397515354
NM_000784.4(CYP27A1):c.944_948del (p.Leu315fs) rs397515356
NM_001278064.1(GRM1):c.[2652_2654delGAA;2660+2T>C]
NM_001278064.2(GRM1):c.1360C>T (p.Leu454Phe) rs988699004
NM_001278064.2(GRM1):c.889C>T (p.Arg297Ter)
NM_001386140.1(MTTP):c.1237-1G>A rs1560621444
NM_001386140.1(MTTP):c.1237_1344del (p.Ser413_Lys448del)
NM_001386140.1(MTTP):c.1769G>T (p.Ser590Ile) rs199422222
NM_001386140.1(MTTP):c.215del (p.Pro72fs) rs1560614154
NM_001386140.1(MTTP):c.2338A>T (p.Asn780Tyr) rs199422221
NM_001510.3(GRID2):c.530-12057_735+24661del36924

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