ClinVar Miner

List of variants reported as uncertain significance for autosomal recessive metabolic cerebellar ataxia by Natera, Inc.

Included ClinVar conditions (9):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 103
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HGVS dbSNP gnomAD frequency
NM_000784.4(CYP27A1):c.646+4C>T rs191313794 0.00105
NM_000784.4(CYP27A1):c.703G>A (p.Glu235Lys) rs149897566 0.00083
NM_001386140.1(MTTP):c.1874C>T (p.Pro625Leu) rs146045390 0.00049
NM_000370.3(TTPA):c.178G>A (p.Asp60Asn) rs199636231 0.00046
NM_000370.3(TTPA):c.452G>A (p.Arg151Gln) rs150710403 0.00040
NM_001386140.1(MTTP):c.1023A>G (p.Lys341=) rs145724674 0.00040
NM_001386140.1(MTTP):c.146G>A (p.Gly49Glu) rs145545828 0.00032
NM_001386140.1(MTTP):c.2657C>T (p.Pro886Leu) rs144600401 0.00028
NM_000370.3(TTPA):c.204+6C>T rs574780098 0.00018
NM_000370.3(TTPA):c.760G>T (p.Asp254Tyr) rs374606907 0.00018
NM_000784.4(CYP27A1):c.1017+5G>A rs370304209 0.00016
NM_000784.4(CYP27A1):c.1343G>A (p.Arg448His) rs370868184 0.00016
NM_000784.4(CYP27A1):c.504A>T (p.Pro168=) rs142623022 0.00016
NM_000784.4(CYP27A1):c.215T>A (p.Leu72Gln) rs138189735 0.00014
NM_000370.3(TTPA):c.635C>A (p.Pro212Gln) rs141163645 0.00012
NM_000784.4(CYP27A1):c.355C>T (p.Arg119Trp) rs369294392 0.00011
NM_001386140.1(MTTP):c.368C>T (p.Thr123Met) rs754693915 0.00011
NM_000784.4(CYP27A1):c.1017G>A (p.Thr339=) rs200553205 0.00010
NM_001386140.1(MTTP):c.130C>G (p.Leu44Val) rs779068565 0.00009
NM_000784.4(CYP27A1):c.1297C>T (p.Arg433Trp) rs143002163 0.00008
NM_001386140.1(MTTP):c.803T>C (p.Met268Thr) rs146513720 0.00008
NM_000784.4(CYP27A1):c.702C>T (p.Pro234=) rs371636461 0.00007
NM_001386140.1(MTTP):c.1540C>T (p.Pro514Ser) rs200114105 0.00007
NM_000370.3(TTPA):c.355A>G (p.Ile119Val) rs766200402 0.00006
NM_000370.3(TTPA):c.75G>C (p.Gln25His) rs751638180 0.00006
NM_000784.4(CYP27A1):c.425T>C (p.Leu142Pro) rs369363177 0.00006
NM_000784.4(CYP27A1):c.83A>C (p.Lys28Thr) rs371449777 0.00006
NM_001386140.1(MTTP):c.1769+3A>G rs375993709 0.00006
NM_001386140.1(MTTP):c.558C>G (p.Ile186Met) rs375982037 0.00006
NM_000784.4(CYP27A1):c.472C>T (p.Arg158Cys) rs774541162 0.00005
NM_001386140.1(MTTP):c.173G>A (p.Arg58His) rs201464944 0.00005
NM_001386140.1(MTTP):c.1876C>T (p.Arg626Cys) rs148696330 0.00005
NM_000784.4(CYP27A1):c.613A>G (p.Met205Val) rs147321244 0.00004
NM_001386140.1(MTTP):c.163G>A (p.Val55Met) rs369453726 0.00004
NM_001386140.1(MTTP):c.2167G>A (p.Asp723Asn) rs371023325 0.00004
NM_001386140.1(MTTP):c.2190A>G (p.Gly730=) rs761984561 0.00004
NM_001386140.1(MTTP):c.34A>G (p.Ile12Val) rs764357849 0.00004
NM_001386140.1(MTTP):c.833A>G (p.Lys278Arg) rs886058957 0.00004
NM_000370.3(TTPA):c.221A>G (p.Tyr74Cys) rs368131865 0.00003
NM_000784.4(CYP27A1):c.1055C>T (p.Ser352Leu) rs780927834 0.00003
NM_001386140.1(MTTP):c.1888A>G (p.Thr630Ala) rs368679444 0.00003
NM_001386140.1(MTTP):c.2457T>G (p.Phe819Leu) rs765341695 0.00003
NM_001386140.1(MTTP):c.430G>C (p.Ala144Pro) rs1249405862 0.00003
NM_000784.4(CYP27A1):c.1148T>A (p.Met383Lys) rs539356203 0.00002
NM_000784.4(CYP27A1):c.1494G>C (p.Lys498Asn) rs377290147 0.00002
NM_000784.4(CYP27A1):c.518T>C (p.Leu173Pro) rs1378044084 0.00002
NM_000784.4(CYP27A1):c.919G>T (p.Val307Leu) rs779794737 0.00002
NM_001386140.1(MTTP):c.2045G>A (p.Gly682Glu) rs751715076 0.00002
NM_001386140.1(MTTP):c.2165G>A (p.Gly722Asp) rs1419028802 0.00002
NM_001386140.1(MTTP):c.877G>T (p.Val293Phe) rs146548751 0.00002
NM_000370.3(TTPA):c.117C>T (p.Gly39=) rs750576019 0.00001
NM_000370.3(TTPA):c.272G>C (p.Ser91Thr) rs186021365 0.00001
NM_000370.3(TTPA):c.401G>A (p.Arg134Gln) rs748038814 0.00001
NM_000370.3(TTPA):c.752C>T (p.Ser251Phe) rs756313678 0.00001
NM_000784.4(CYP27A1):c.1059G>T (p.Lys353Asn) rs372343607 0.00001
NM_000784.4(CYP27A1):c.1195G>T (p.Val399Leu) rs1453048118 0.00001
NM_000784.4(CYP27A1):c.1309G>T (p.Ala437Ser) rs1337764272 0.00001
NM_000784.4(CYP27A1):c.1515G>A (p.Thr505=) rs886656814 0.00001
NM_000784.4(CYP27A1):c.1537C>T (p.Arg513Cys) rs560108684 0.00001
NM_000784.4(CYP27A1):c.1541T>C (p.Ile514Thr) rs370013480 0.00001
NM_000784.4(CYP27A1):c.527A>G (p.Asp176Gly) rs748325824 0.00001
NM_001386140.1(MTTP):c.1286T>C (p.Met429Thr) rs765712127 0.00001
NM_001386140.1(MTTP):c.1325A>G (p.Asn442Ser) rs368711749 0.00001
NM_001386140.1(MTTP):c.1564A>G (p.Lys522Glu) rs780688378 0.00001
NM_001386140.1(MTTP):c.1636A>G (p.Ile546Val) rs200992175 0.00001
NM_001386140.1(MTTP):c.1951T>C (p.Phe651Leu) rs1159084242 0.00001
NM_001386140.1(MTTP):c.2006A>G (p.Gln669Arg) rs1309109456 0.00001
NM_001386140.1(MTTP):c.2041G>A (p.Glu681Lys) rs886058958 0.00001
NM_001386140.1(MTTP):c.2144C>G (p.Ser715Cys) rs149228079 0.00001
NM_001386140.1(MTTP):c.2315G>A (p.Arg772His) rs752590883 0.00001
NM_001386140.1(MTTP):c.2348C>T (p.Thr783Ile) rs572336571 0.00001
NM_001386140.1(MTTP):c.2666C>A (p.Thr889Asn) rs1459889971 0.00001
NM_001386140.1(MTTP):c.332T>C (p.Met111Thr) rs1283368181 0.00001
NM_001386140.1(MTTP):c.452G>T (p.Gly151Val) rs1252692732 0.00001
NM_001386140.1(MTTP):c.536A>G (p.Gln179Arg) rs746001155 0.00001
NM_001386140.1(MTTP):c.695C>T (p.Ala232Val) rs748108500 0.00001
NM_000370.3(TTPA):c.123G>A (p.Pro41=) rs1368032681
NM_000370.3(TTPA):c.131C>T (p.Pro44Leu) rs928983374
NM_000370.3(TTPA):c.143C>T (p.Thr48Ile) rs2129795826
NM_000370.3(TTPA):c.166C>T (p.Leu56=) rs1482746572
NM_000370.3(TTPA):c.177G>C (p.Arg59=) rs1805742361
NM_000784.4(CYP27A1):c.1017+5G>C rs370304209
NM_000784.4(CYP27A1):c.130C>T (p.Pro44Ser) rs923201483
NM_000784.4(CYP27A1):c.1436G>A (p.Arg479His) rs199638075
NM_000784.4(CYP27A1):c.1514C>T (p.Thr505Met) rs76822427
NM_000784.4(CYP27A1):c.1538G>A (p.Arg513His) rs144701596
NM_000784.4(CYP27A1):c.172GAG[1] (p.Glu59del) rs766316288
NM_000784.4(CYP27A1):c.404A>G (p.Glu135Gly) rs1943692342
NM_000784.4(CYP27A1):c.491G>C (p.Arg164Pro) rs148417330
NM_000784.4(CYP27A1):c.515C>A (p.Ala172Glu) rs200753815
NM_000784.4(CYP27A1):c.701C>T (p.Pro234Leu) rs1943733556
NM_001386140.1(MTTP):c.159C>A (p.Asp53Glu) rs72681995
NM_001386140.1(MTTP):c.1729G>A (p.Ala577Thr) rs1368249156
NM_001386140.1(MTTP):c.1784G>A (p.Arg595Gln) rs746293101
NM_001386140.1(MTTP):c.1868-6C>T rs772185759
NM_001386140.1(MTTP):c.2313T>C (p.Tyr771=) rs1578257313
NM_001386140.1(MTTP):c.2378A>G (p.Asp793Gly) rs780797954
NM_001386140.1(MTTP):c.2513G>A (p.Arg838Lys) rs1726222895
NM_001386140.1(MTTP):c.2550C>G (p.Gly850=) rs1272679414
NM_001386140.1(MTTP):c.2629A>G (p.Met877Val) rs1726272076
NM_001386140.1(MTTP):c.543T>G (p.His181Gln) rs150319930
NM_001386140.1(MTTP):c.759G>A (p.Lys253=) rs1725509234
NM_001386140.1(MTTP):c.854C>T (p.Thr285Met) rs566965111

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