ClinVar Miner

Variants in gene PNPLA6 with conflicting interpretations "uncertain significance" and "likely benign"

Submission 1 (uncertain significance) minimum review status: Submission 1 (uncertain significance) method:
Submission 2 (likely benign) minimum review status: Submission 2 (likely benign) method:
Gene type:
ClinVar version:
Total variants with conflicting interpretations: 34
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HGVS dbSNP gnomAD frequency
NM_001166114.2(PNPLA6):c.2359G>A (p.Val787Met) rs145988230 0.00160
NM_001166114.2(PNPLA6):c.1109C>T (p.Pro370Leu) rs200897068 0.00128
NM_001166114.2(PNPLA6):c.3912C>T (p.Asp1304=) rs149871062 0.00087
NM_001166114.2(PNPLA6):c.3495C>T (p.Ser1165=) rs138837774 0.00064
NM_001166114.2(PNPLA6):c.1935C>G (p.Arg645=) rs138023728 0.00061
NM_001166114.2(PNPLA6):c.3914-8G>A rs374861157 0.00044
NM_001166114.2(PNPLA6):c.3003C>T (p.Gly1001=) rs145459571 0.00039
NM_001166114.2(PNPLA6):c.3699+9G>A rs201144113 0.00024
NM_001166114.2(PNPLA6):c.225A>G (p.Arg75=) rs553088930 0.00023
NM_001166114.2(PNPLA6):c.2939G>C (p.Gly980Ala) rs201902695 0.00011
NM_001166114.2(PNPLA6):c.4077C>T (p.Pro1359=) rs143060121 0.00011
NM_001166114.2(PNPLA6):c.648G>A (p.Pro216=) rs566213812 0.00009
NM_001166114.2(PNPLA6):c.3450G>A (p.Gly1150=) rs367675784 0.00007
NM_001166114.2(PNPLA6):c.3375C>T (p.Gly1125=) rs375987938 0.00005
NM_001166114.2(PNPLA6):c.864G>A (p.Pro288=) rs369082833 0.00004
NM_001166114.2(PNPLA6):c.1962C>T (p.Ser654=) rs757870828 0.00003
NM_001166114.2(PNPLA6):c.2185-15C>T rs780822241 0.00003
NM_001166114.2(PNPLA6):c.3397+11G>T rs370597983 0.00003
NM_001166114.2(PNPLA6):c.3990C>T (p.Pro1330=) rs535388759 0.00003
NM_001166114.2(PNPLA6):c.2028G>A (p.Lys676=) rs779751590 0.00002
NM_001166114.2(PNPLA6):c.1212T>C (p.Pro404=) rs748049105 0.00001
NM_001166114.2(PNPLA6):c.131C>T (p.Pro44Leu) rs372169542 0.00001
NM_001166114.2(PNPLA6):c.2277G>A (p.Val759=) rs1030480370 0.00001
NM_001166114.2(PNPLA6):c.2402-11C>A rs756209420 0.00001
NM_001166114.2(PNPLA6):c.2958A>G (p.Val986=) rs752794292 0.00001
NM_001166114.2(PNPLA6):c.3339G>A (p.Leu1113=) rs770303471 0.00001
NM_001166114.2(PNPLA6):c.621G>A (p.Leu207=) rs200521839 0.00001
NM_001166114.2(PNPLA6):c.684C>T (p.Asp228=) rs375424103 0.00001
NM_001166114.2(PNPLA6):c.1608+11C>T rs368627125
NM_001166114.2(PNPLA6):c.1770A>G (p.Gln590=) rs780340075
NM_001166114.2(PNPLA6):c.2937-4G>A rs1178206789
NM_001166114.2(PNPLA6):c.306T>A (p.Ile102=) rs554346890
NM_001166114.2(PNPLA6):c.3726G>A (p.Ala1242=) rs146121276
NM_001166114.2(PNPLA6):c.3882C>G (p.Pro1294=) rs202070445

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