ClinVar Miner

List of variants in gene PNPLA6 reported as pathogenic for syndromic dyslipidemia

Included ClinVar conditions (70):
Minimum submission review status: Collection method:
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Gene type:
ClinVar version:
Total variants: 68
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HGVS dbSNP gnomAD frequency
NM_001166114.2(PNPLA6):c.4045C>T (p.Arg1349Trp) rs374434303 0.00006
NM_001166114.2(PNPLA6):c.4003C>T (p.Pro1335Ser) rs151264767 0.00005
NM_001166114.2(PNPLA6):c.3300del (p.Arg1101fs) rs756591718 0.00004
NM_001166114.2(PNPLA6):c.2483del (p.Leu828fs) rs756542477 0.00002
NM_001166114.2(PNPLA6):c.3304G>A (p.Ala1102Thr) rs1236012815 0.00002
NM_001166114.2(PNPLA6):c.3355G>A (p.Gly1119Arg) rs773955314 0.00002
NM_001166114.2(PNPLA6):c.4051C>T (p.Arg1351Ter) rs370033046 0.00002
NM_001166114.2(PNPLA6):c.1456C>A (p.Pro486Thr) rs1055816694 0.00001
NM_001166114.2(PNPLA6):c.1853C>T (p.Ala618Val) rs568356836 0.00001
NM_001166114.2(PNPLA6):c.2016del (p.Ser673fs) rs765221332 0.00001
NM_001166114.2(PNPLA6):c.3104C>T (p.Ser1035Leu) rs541098659 0.00001
NM_001166114.2(PNPLA6):c.316-2A>T rs148045000 0.00001
NM_001166114.2(PNPLA6):c.3518G>A (p.Arg1173Gln) rs1057517802 0.00001
NM_001166114.2(PNPLA6):c.4046G>A (p.Arg1349Gln) rs368661376 0.00001
NM_001166114.2(PNPLA6):c.897C>A (p.Tyr299Ter) rs1568408269 0.00001
NC_000019.10:g.7555609dup rs2146105309
NC_000019.9:g.(?_7604804)_(7607970_?)del
NC_000019.9:g.(?_7617787)_(7622096_?)del
NC_000019.9:g.(?_7618738)_(7619178_?)del
NM_001166114.2(PNPLA6):c.1211dup (p.Leu405fs) rs765307463
NM_001166114.2(PNPLA6):c.1229dup (p.Ser411fs) rs2146058319
NM_001166114.2(PNPLA6):c.1321C>T (p.Gln441Ter) rs2023204790
NM_001166114.2(PNPLA6):c.1362+1G>C rs2146060616
NM_001166114.2(PNPLA6):c.1372C>T (p.Gln458Ter)
NM_001166114.2(PNPLA6):c.1606C>T (p.Gln536Ter) rs1416173690
NM_001166114.2(PNPLA6):c.1684_1685del (p.Cys562fs) rs1395700335
NM_001166114.2(PNPLA6):c.1692dup (p.Val565fs) rs2023573141
NM_001166114.2(PNPLA6):c.1720C>T (p.Gln574Ter)
NM_001166114.2(PNPLA6):c.1751del (p.Ile584fs)
NM_001166114.2(PNPLA6):c.1913G>A (p.Trp638Ter)
NM_001166114.2(PNPLA6):c.1968C>A (p.Cys656Ter)
NM_001166114.2(PNPLA6):c.1974C>A (p.Tyr658Ter)
NM_001166114.2(PNPLA6):c.2046C>A (p.Tyr682Ter) rs768438032
NM_001166114.2(PNPLA6):c.2185-1G>T rs606231249
NM_001166114.2(PNPLA6):c.2285_2286dup (p.Ser763fs) rs2146099465
NM_001166114.2(PNPLA6):c.2405dup (p.Thr803fs) rs1555749683
NM_001166114.2(PNPLA6):c.2489G>A (p.Gly830Glu) rs587777185
NM_001166114.2(PNPLA6):c.2533C>T (p.Gln845Ter)
NM_001166114.2(PNPLA6):c.2542del (p.Ala848fs)
NM_001166114.2(PNPLA6):c.266del (p.Phe89fs) rs2022862975
NM_001166114.2(PNPLA6):c.2783G>A (p.Arg928His) rs121434416
NM_001166114.2(PNPLA6):c.2787_2800dup (p.Arg934fs)
NM_001166114.2(PNPLA6):c.2839_2840dup (p.Arg949fs) rs1168679768
NM_001166114.2(PNPLA6):c.2924G>A (p.Gly975Glu) rs1599305317
NM_001166114.2(PNPLA6):c.3058_3061dup (p.Arg1021fs) rs606231167
NM_001166114.2(PNPLA6):c.3100A>G (p.Thr1034Ala)
NM_001166114.2(PNPLA6):c.3104C>A (p.Ser1035Ter)
NM_001166114.2(PNPLA6):c.3143C>T (p.Thr1048Ile) rs587777181
NM_001166114.2(PNPLA6):c.3148A>G (p.Met1050Val) rs121434415
NM_001166114.2(PNPLA6):c.3265C>T (p.Arg1089Ter) rs562113164
NM_001166114.2(PNPLA6):c.3266G>A (p.Arg1089Gln) rs786201037
NM_001166114.2(PNPLA6):c.3292C>T (p.Arg1098Trp)
NM_001166114.2(PNPLA6):c.3296A>G (p.Tyr1099Cys) rs2146110600
NM_001166114.2(PNPLA6):c.3298G>A (p.Val1100Met) rs587777182
NM_001166114.2(PNPLA6):c.3361del (p.Leu1121fs) rs766796997
NM_001166114.2(PNPLA6):c.3501G>A (p.Trp1167Ter)
NM_001166114.2(PNPLA6):c.3503G>A (p.Trp1168Ter) rs1555751597
NM_001166114.2(PNPLA6):c.3517C>T (p.Arg1173Trp) rs766389806
NM_001166114.2(PNPLA6):c.3668_3669insTT (p.Met1224fs)
NM_001166114.2(PNPLA6):c.3851T>A (p.Leu1284Ter)
NM_001166114.2(PNPLA6):c.3925del (p.Asp1309fs) rs1060502664
NM_001166114.2(PNPLA6):c.3984dup (p.Ser1329fs) rs753221489
NM_001166114.2(PNPLA6):c.3989_4005del (p.Pro1330fs)
NM_001166114.2(PNPLA6):c.699_700del (p.Cys234fs) rs2146051234
NM_001166114.2(PNPLA6):c.715-2A>C
NM_001166114.2(PNPLA6):c.760G>A (p.Val254Ile) rs587777184
NM_001166114.2(PNPLA6):c.811C>T (p.Gln271Ter)
NM_001166114.2(PNPLA6):c.898C>A (p.Pro300Thr) rs1057518936

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