ClinVar Miner

List of variants studied for Laurence-Moon syndrome by Genome-Nilou Lab

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Total variants: 13
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HGVS dbSNP gnomAD frequency
NM_001166114.2(PNPLA6):c.2465+41C>G rs534464 0.79112
NM_001166114.2(PNPLA6):c.2634+39T>C rs599330 0.76480
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 0.41358
NM_001166114.2(PNPLA6):c.2818-19A>G rs563826 0.35658
NM_001166114.2(PNPLA6):c.2635-19A>C rs539887 0.35604
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.2634+38G>C rs599328
NM_001166114.2(PNPLA6):c.3913+23del rs11307097

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