ClinVar Miner

List of variants in gene PNPLA6 studied for Inborn genetic diseases

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Total variants: 44
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HGVS dbSNP gnomAD frequency
NM_001166114.2(PNPLA6):c.2937-6C>T rs200932494 0.00214
NM_001166114.2(PNPLA6):c.795+3G>A rs375930477 0.00038
NM_001166114.2(PNPLA6):c.1343C>G (p.Ser448Cys) rs144028775 0.00019
NM_001166114.2(PNPLA6):c.3997G>A (p.Ala1333Thr) rs143280550 0.00014
NM_001166114.2(PNPLA6):c.3712C>G (p.Gln1238Glu) rs143072391 0.00013
NM_001166114.2(PNPLA6):c.1270C>T (p.Arg424Cys) rs763561590 0.00010
NM_001166114.2(PNPLA6):c.3181C>T (p.His1061Tyr) rs753273617 0.00009
NM_001166114.2(PNPLA6):c.3724G>A (p.Ala1242Thr) rs755872517 0.00009
NM_001166114.2(PNPLA6):c.217A>G (p.Arg73Gly) rs781291417 0.00007
NM_001166114.2(PNPLA6):c.4018G>A (p.Glu1340Lys) rs376402887 0.00005
NM_001166114.2(PNPLA6):c.3647C>T (p.Pro1216Leu) rs762047744 0.00004
NM_001166114.2(PNPLA6):c.1088G>A (p.Ser363Asn) rs756600765 0.00003
NM_001166114.2(PNPLA6):c.3095G>C (p.Ser1032Thr) rs377449787 0.00003
NM_001166114.2(PNPLA6):c.2405C>T (p.Pro802Leu) rs1009954378 0.00002
NM_001166114.2(PNPLA6):c.3688G>A (p.Asp1230Asn) rs747752100 0.00002
NM_001166114.2(PNPLA6):c.3728T>C (p.Val1243Ala) rs760045636 0.00002
NM_001166114.2(PNPLA6):c.3744C>G (p.Ser1248Arg) rs1000008449 0.00002
NM_001166114.2(PNPLA6):c.881C>T (p.Ala294Val) rs756180538 0.00002
NM_001166114.2(PNPLA6):c.1147G>A (p.Ala383Thr) rs774683671 0.00001
NM_001166114.2(PNPLA6):c.1336G>C (p.Gly446Arg) rs573529919 0.00001
NM_001166114.2(PNPLA6):c.1361G>A (p.Arg454Gln) rs370626406 0.00001
NM_001166114.2(PNPLA6):c.1621C>T (p.His541Tyr) rs1050752297 0.00001
NM_001166114.2(PNPLA6):c.238C>T (p.Pro80Ser) rs772575811 0.00001
NM_001166114.2(PNPLA6):c.3019T>G (p.Ser1007Ala) rs775899903 0.00001
NM_001166114.2(PNPLA6):c.3806G>A (p.Arg1269His) rs140155524 0.00001
NM_001166114.2(PNPLA6):c.1211dup (p.Leu405fs) rs765307463
NM_001166114.2(PNPLA6):c.130C>T (p.Pro44Ser) rs908461148
NM_001166114.2(PNPLA6):c.1339G>A (p.Gly447Arg) rs373883256
NM_001166114.2(PNPLA6):c.1666G>T (p.Asp556Tyr)
NM_001166114.2(PNPLA6):c.1681G>A (p.Val561Met)
NM_001166114.2(PNPLA6):c.1765G>A (p.Ala589Thr)
NM_001166114.2(PNPLA6):c.1825G>A (p.Ala609Thr)
NM_001166114.2(PNPLA6):c.2185-6C>T
NM_001166114.2(PNPLA6):c.2386G>T (p.Ala796Ser) rs144206674
NM_001166114.2(PNPLA6):c.2518C>T (p.Arg840Cys) rs1599303242
NM_001166114.2(PNPLA6):c.2542G>C (p.Ala848Pro)
NM_001166114.2(PNPLA6):c.2911C>T (p.Leu971Phe)
NM_001166114.2(PNPLA6):c.2923G>A (p.Gly975Arg) rs2146104239
NM_001166114.2(PNPLA6):c.2965G>A (p.Ala989Thr)
NM_001166114.2(PNPLA6):c.3058_3061dup (p.Arg1021fs) rs606231167
NM_001166114.2(PNPLA6):c.3172C>T (p.Arg1058Cys) rs576986571
NM_001166114.2(PNPLA6):c.3269T>G (p.Val1090Gly) rs754429587
NM_001166114.2(PNPLA6):c.3337C>A (p.Leu1113Met) rs1210970179
NM_001166114.2(PNPLA6):c.890C>A (p.Thr297Asn) rs777868937

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