ClinVar Miner

List of variants in gene PNPLA6 studied for Laurence-Moon syndrome

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Total variants: 18
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HGVS dbSNP gnomAD frequency
NM_001166114.2(PNPLA6):c.2465+41C>G rs534464 0.78640
NM_001166114.2(PNPLA6):c.2634+39T>C rs599330 0.76641
NM_001166114.2(PNPLA6):c.1362+8T>C rs620744 0.68799
NM_001166114.2(PNPLA6):c.3398-36G>A rs535208 0.58035
NM_001166114.2(PNPLA6):c.2260+24G>A rs473899 0.50240
NM_001166114.2(PNPLA6):c.3280+38C>T rs489056 0.47937
NM_001166114.2(PNPLA6):c.3699+41C>T rs538850 0.41747
NM_001166114.2(PNPLA6):c.2818-19A>G rs563826 0.35323
NM_001166114.2(PNPLA6):c.2635-19A>C rs539887 0.35260
NM_001166114.2(PNPLA6):c.1253-6C>T rs574930 0.32237
NM_001166114.2(PNPLA6):c.3699+42G>A rs538852 0.24937
NM_001166114.2(PNPLA6):c.3746G>A (p.Arg1249His) rs760038069 0.00002
NM_001166114.2(PNPLA6):c.1612G>A (p.Val538Met) rs2512531860
NM_001166114.2(PNPLA6):c.1769A>C (p.Gln590Pro) rs2023576110
NM_001166114.2(PNPLA6):c.2149G>C (p.Gly717Arg) rs2146090036
NM_001166114.2(PNPLA6):c.2634+38G>C rs599328
NM_001166114.2(PNPLA6):c.3058_3061dup (p.Arg1021fs) rs606231167
NM_001166114.2(PNPLA6):c.3913+23del rs11307097

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