ClinVar Miner

List of variants reported for Hyperlipoproteinemia, type I by Natera, Inc.

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Total variants: 52
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HGVS dbSNP gnomAD frequency
NM_000237.3(LPL):c.1164C>A (p.Thr388=) rs316 0.15994
NM_000237.3(LPL):c.1018+82C>A rs270 0.14245
NM_000237.3(LPL):c.435G>A (p.Glu145=) rs248 0.05843
NM_000237.3(LPL):c.106G>A (p.Asp36Asn) rs1801177 0.01951
NM_000237.3(LPL):c.953A>G (p.Asn318Ser) rs268 0.01327
NM_000237.3(LPL):c.1279G>A (p.Ala427Thr) rs5934 0.00972
NM_000237.3(LPL):c.-283G>T rs80351041 0.00790
NM_000237.3(LPL):c.1018+34A>G rs190249506 0.00372
NM_000237.3(LPL):c.1135A>G (p.Thr379Ala) rs300 0.00353
NM_000237.3(LPL):c.456T>C (p.Asn152=) rs116678290 0.00183
NM_000237.3(LPL):c.1128C>T (p.Ile376=) rs299 0.00140
NM_000237.3(LPL):c.1136C>T (p.Thr379Ile) rs76708715 0.00133
NM_000237.3(LPL):c.345A>C (p.Ser115=) rs147309575 0.00088
NM_000237.3(LPL):c.786G>A (p.Gln262=) rs140986245 0.00066
NM_000237.3(LPL):c.542-8C>T rs201634558 0.00059
NM_000237.3(LPL):c.798C>T (p.Cys266=) rs118204082 0.00034
NM_000237.3(LPL):c.644G>A (p.Gly215Glu) rs118204057 0.00024
NM_000237.3(LPL):c.998G>A (p.Arg333His) rs144466625 0.00024
NM_000237.3(LPL):c.687T>C (p.His229=) rs45607438 0.00022
NM_000237.3(LPL):c.189C>T (p.Ser63=) rs114726797 0.00021
NM_000237.3(LPL):c.528C>G (p.Val176=) rs199606532 0.00013
NM_000237.3(LPL):c.111C>T (p.Ile37=) rs374067507 0.00006
NM_000237.3(LPL):c.292G>A (p.Ala98Thr) rs145657341 0.00006
NM_000237.3(LPL):c.835C>G (p.Leu279Val) rs371282890 0.00006
NM_000237.3(LPL):c.1338T>C (p.Ser446=) rs146509813 0.00004
NM_000237.3(LPL):c.272G>A (p.Trp91Ter) rs118204070 0.00004
NM_000237.3(LPL):c.662T>C (p.Ile221Thr) rs118204061 0.00004
NM_000237.3(LPL):c.112G>A (p.Glu38Lys) rs557015233 0.00003
NM_000237.3(LPL):c.547G>A (p.Asp183Asn) rs781614031 0.00002
NM_000237.3(LPL):c.755T>C (p.Ile252Thr) rs118204080 0.00002
NM_000237.3(LPL):c.805G>A (p.Glu269Lys) rs761886494 0.00002
NM_000237.3(LPL):c.1051G>A (p.Gly351Arg) rs772132247 0.00001
NM_000237.3(LPL):c.1207C>T (p.Leu403Phe) rs1156454170 0.00001
NM_000237.3(LPL):c.1272C>T (p.Pro424=) rs200852756 0.00001
NM_000237.3(LPL):c.1344G>A (p.Glu448=) rs143110734 0.00001
NM_000237.3(LPL):c.313G>A (p.Asp105Asn) rs1271941649 0.00001
NM_000237.3(LPL):c.397C>T (p.Gln133Ter) rs118204058 0.00001
NM_000237.3(LPL):c.808C>T (p.Arg270Cys) rs118204077 0.00001
NM_000237.3(LPL):c.809G>A (p.Arg270His) rs118204062 0.00001
NM_000237.3(LPL):c.829G>A (p.Asp277Asn) rs118204068 0.00001
NM_000237.3(LPL):c.836T>G (p.Leu279Arg) rs35414700 0.00001
NM_000237.3(LPL):c.900G>A (p.Gly300=) rs748234170 0.00001
NM_000237.3(LPL):c.1234G>A (p.Asp412Asn) rs541991367
NM_000237.3(LPL):c.213C>G (p.His71Gln) rs11542065
NM_000237.3(LPL):c.276G>A (p.Val92=) rs551959021
NM_000237.3(LPL):c.290C>T (p.Ala97Val) rs201946950
NM_000237.3(LPL):c.59C>T (p.Ala20Val) rs572477224
NM_000237.3(LPL):c.678A>G (p.Pro226=) rs558390128
NM_000237.3(LPL):c.72G>C (p.Gly24=) rs1175832133
NM_000237.3(LPL):c.744T>C (p.Ala248=) rs757675785
NM_000237.3(LPL):c.784C>T (p.Gln262Ter) rs1297688787
NM_000237.3(LPL):c.84C>G (p.Ala28=) rs1387718651

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