ClinVar Miner

List of variants studied for overnutrition by Fulgent Genetics, Fulgent Genetics

Included ClinVar conditions (59):
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ClinVar version:
Total variants: 61
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HGVS dbSNP gnomAD frequency
NM_001386140.1(MTTP):c.383T>C (p.Ile128Thr) rs3816873 0.26064
NM_002303.6(LEPR):c.326A>G (p.Lys109Arg) rs1137100 0.25399
NM_016362.5(GHRL):c.214C>A (p.Leu72Met) rs696217 0.07013
NM_003356.4(UCP3):c.127-7C>T rs77012485 0.00848
NM_002303.6(LEPR):c.2958C>T (p.Tyr986=) rs1805095 0.00643
NM_138711.6(PPARG):c.1281A>G (p.Ser427=) rs41516544 0.00627
NM_006208.3(ENPP1):c.313+11_313+15del rs771304080 0.00163
NM_000439.5(PCSK1):c.1387G>A (p.Glu463Lys) rs143174906 0.00085
NM_003356.4(UCP3):c.356G>A (p.Arg119Gln) rs17848372 0.00035
NM_003356.4(UCP3):c.72C>T (p.Ala24=) rs70965455 0.00031
NM_006208.3(ENPP1):c.2330A>G (p.His777Arg) rs147346173 0.00028
NM_001138.2(AGRP):c.264A>G (p.Val88=) rs145840661 0.00021
NM_006208.3(ENPP1):c.*128C>T rs371896132 0.00021
NM_006208.3(ENPP1):c.614C>A (p.Ala205Glu) rs145868241 0.00017
NM_001386140.1(MTTP):c.1301C>T (p.Thr434Ile) rs1467372840 0.00015
NM_000025.3(ADRB3):c.1013A>G (p.Asn338Ser) rs200277866 0.00014
NM_000025.3(ADRB3):c.452A>G (p.Lys151Arg) rs200133226 0.00014
NM_000439.5(PCSK1):c.541T>C (p.Tyr181His) rs145592525 0.00014
NM_006208.3(ENPP1):c.1798T>C (p.Tyr600His) rs199890118 0.00012
NM_003356.4(UCP3):c.922C>T (p.Arg308Trp) rs763155375 0.00009
NM_006208.3(ENPP1):c.750G>A (p.Pro250=) rs368742582 0.00009
NM_003356.4(UCP3):c.490G>A (p.Asp164Asn) rs367566750 0.00008
NM_006208.3(ENPP1):c.1699A>G (p.Ile567Val) rs750660271 0.00008
NM_006208.3(ENPP1):c.1352A>G (p.Tyr451Cys) rs201519006 0.00007
NM_003356.4(UCP3):c.202A>G (p.Met68Val) rs370829405 0.00006
NM_006208.3(ENPP1):c.2445-5T>C rs369942606 0.00006
NM_006208.3(ENPP1):c.626C>T (p.Thr209Met) rs187764662 0.00006
NM_006208.3(ENPP1):c.685G>A (p.Gly229Ser) rs147798392 0.00006
NM_006208.3(ENPP1):c.2380G>A (p.Val794Ile) rs201757026 0.00005
NM_000939.4(POMC):c.433C>T (p.Arg145Cys) rs756412997 0.00004
NM_001386140.1(MTTP):c.1867+1G>A rs764189338 0.00004
NM_003356.4(UCP3):c.386T>C (p.Met129Thr) rs1047063799 0.00004
NM_006208.3(ENPP1):c.2633T>C (p.Val878Ala) rs754251347 0.00004
NM_000439.5(PCSK1):c.352C>T (p.Leu118=) rs750104173 0.00003
NM_006208.3(ENPP1):c.2089G>A (p.Val697Met) rs762065573 0.00003
NM_002303.6(LEPR):c.691C>T (p.Pro231Ser) rs776647803 0.00002
NM_003356.4(UCP3):c.274G>A (p.Ala92Thr) rs192655642 0.00002
NM_006208.3(ENPP1):c.1274-5C>T rs751500820 0.00002
NM_000939.4(POMC):c.-11C>A rs753856820 0.00001
NM_000939.4(POMC):c.491C>T (p.Ala164Val) rs773522618 0.00001
NM_001386140.1(MTTP):c.1636A>G (p.Ile546Val) rs200992175 0.00001
NM_001386140.1(MTTP):c.863C>A (p.Pro288His) rs1022457887 0.00001
NM_006208.3(ENPP1):c.2311+8A>G rs760047831 0.00001
NM_006208.3(ENPP1):c.2344C>T (p.Arg782Ter) rs1782357136 0.00001
NM_006208.3(ENPP1):c.2608-1G>A rs149828062 0.00001
NM_006208.3(ENPP1):c.595A>G (p.Asn199Asp) rs766617922 0.00001
NM_006208.3(ENPP1):c.795+12A>G rs1781980876 0.00001
NM_000439.5(PCSK1):c.2137C>T (p.Leu713Phe) rs886060888
NM_000939.4(POMC):c.283A>G (p.Ser95Gly) rs550376110
NM_000939.4(POMC):c.434G>A (p.Arg145His) rs45463492
NM_001386140.1(MTTP):c.1385A>T (p.Glu462Val) rs757598679
NM_001386140.1(MTTP):c.141del (p.Gly49fs) rs1228389182
NM_001386140.1(MTTP):c.1636_1637dup (p.Ile547fs) rs2110230146
NM_002303.6(LEPR):c.1968G>C (p.Lys656Asn) rs1805094
NM_003356.4(UCP3):c.63C>G (p.Gly21=) rs181883754
NM_006208.3(ENPP1):c.1437+3_1437+6del rs747843796
NM_006208.3(ENPP1):c.1437+9_1437+12del rs376640801
NM_006208.3(ENPP1):c.2236A>C (p.Asn746His) rs144099489
NM_006208.3(ENPP1):c.2252G>A (p.Gly751Glu) rs1195604374
NM_006208.3(ENPP1):c.313+8_313+9dup rs377330284
NM_006208.3(ENPP1):c.313+8_313+9insTTGTGTGT rs879243445

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