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

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
		ClinVar version:

Total variants: 18

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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.3746G>A (p.Arg1249His)	rs760038069	0.00002
NM_001166114.2(PNPLA6):c.1612G>A (p.Val538Met)
NM_001166114.2(PNPLA6):c.1769A>C (p.Gln590Pro)	rs2023576110
NM_001166114.2(PNPLA6):c.2149G>C (p.Gly717Arg)
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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