ClinVar Miner

List of variants reported as benign for hypobetalipoproteinemia by Illumina Laboratory Services, Illumina

Included ClinVar conditions (8):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 59
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HGVS dbSNP gnomAD frequency
NM_174936.4(PCSK9):c.1026A>G (p.Gln342=) rs509504 0.98223
NM_174936.4(PCSK9):c.207+15A>G rs2495482 0.91171
NM_174936.4(PCSK9):c.1380A>G (p.Val460=) rs540796 0.82761
NM_174936.4(PCSK9):c.*571C>T rs662145 0.67233
NM_001386140.1(MTTP):c.*1046C>G rs1061271 0.59509
NM_174936.4(PCSK9):c.799+3A>G rs2495477 0.49156
NM_001386140.1(MTTP):c.453T>C (p.Gly151=) rs991811 0.47516
NM_001386140.1(MTTP):c.891C>G (p.His297Gln) rs2306985 0.47212
NM_174936.4(PCSK9):c.658-7C>T rs2483205 0.45035
NM_000384.3(APOB):c.7545C>T (p.Thr2515=) rs693 0.38722
NM_001386140.1(MTTP):c.383T>C (p.Ile128Thr) rs3816873 0.26064
NM_000253.3(MTTP):c.-241G>A rs11944752 0.26041
NM_000253.3(MTTP):c.-252G>C rs11944749 0.15525
NM_001386140.1(MTTP):c.522T>C (p.Cys174=) rs982424 0.12209
NM_001386140.1(MTTP):c.969T>C (p.Ala323=) rs17533489 0.10642
NM_174936.4(PCSK9):c.-64C>T rs45448095 0.09487
NM_001386140.1(MTTP):c.294G>C (p.Glu98Asp) rs2306986 0.08726
NM_001386140.1(MTTP):c.497A>G (p.Asn166Ser) rs3792683 0.08314
NM_001386140.1(MTTP):c.*183C>T rs74542928 0.08278
NM_001386140.1(MTTP):c.*862C>A rs6832927 0.08274
NM_001386140.1(MTTP):c.*506A>G rs6832119 0.08272
NM_174936.4(PCSK9):c.524-11G>A rs11800231 0.08151
NM_001386140.1(MTTP):c.39C>G (p.Ser13=) rs7667001 0.07507
NM_001386140.1(MTTP):c.1151A>C (p.Asp384Ala) rs17029215 0.07361
NM_001386140.1(MTTP):c.933C>A (p.Thr311=) rs17029213 0.07360
NM_001386140.1(MTTP):c.1769+9C>T rs34734558 0.07357
NM_001386140.1(MTTP):c.285G>C (p.Gln95His) rs61733139 0.04959
NM_174936.4(PCSK9):c.657+9G>A rs11800243 0.03991
NM_001386140.1(MTTP):c.1769+14C>T rs41275713 0.03960
NM_001386140.1(MTTP):c.730C>G (p.Gln244Glu) rs17599091 0.03958
NM_174936.4(PCSK9):c.*614C>T rs17111557 0.03123
NM_174936.4(PCSK9):c.*414C>T rs13376071 0.03076
NM_174936.4(PCSK9):c.705C>T (p.Ser235=) rs7552471 0.02435
NM_174936.4(PCSK9):c.*345C>T rs17111555 0.02424
NM_174936.4(PCSK9):c.*75C>T rs28362287 0.02377
NM_001386140.1(MTTP):c.*113G>C rs112407688 0.02360
NM_001386140.1(MTTP):c.1981G>A (p.Gly661Ser) rs113337987 0.02355
NM_001386140.1(MTTP):c.660T>C (p.Tyr220=) rs113557405 0.02353
NM_174936.4(PCSK9):c.*444G>C rs28362288 0.01963
NM_001386140.1(MTTP):c.*279C>G rs115807483 0.01703
NM_174936.4(PCSK9):c.*849T>C rs28362292 0.01415
NM_001386140.1(MTTP):c.136C>G (p.Arg46Gly) rs141736123 0.01357
NM_174936.4(PCSK9):c.1326C>T (p.Ala442=) rs28362262 0.00856
NM_174936.4(PCSK9):c.141C>T (p.Ser47=) rs28385701 0.00815
NM_001386140.1(MTTP):c.502G>A (p.Val168Ile) rs61750974 0.00763
NM_174936.4(PCSK9):c.-26G>A rs28362202 0.00715
NM_001386140.1(MTTP):c.*267A>C rs79992570 0.00692
NM_001386140.1(MTTP):c.*588A>G rs184236038 0.00619
NM_000384.3(APOB):c.129G>C (p.Ala43=) rs12720850 0.00580
NM_001386140.1(MTTP):c.*796C>T rs551084925 0.00527
NM_001386140.1(MTTP):c.2043G>A (p.Glu681=) rs145444300 0.00389
NM_001386140.1(MTTP):c.419A>G (p.Asn140Ser) rs61733140 0.00170
NM_174936.4(PCSK9):c.*265C>T rs368297335 0.00001
NM_000384.3(APOB):c.12809G>C (p.Arg4270Thr)
NM_000384.3(APOB):c.13013G>A (p.Ser4338Asn)
NM_174936.4(PCSK9):c.-245G>T rs28362201
NM_174936.4(PCSK9):c.1327G>A (p.Ala443Thr)
NM_174936.4(PCSK9):c.137G>T (p.Arg46Leu)
NM_174936.4(PCSK9):c.158C>T (p.Ala53Val)

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