ClinVar Miner

List of variants reported as uncertain significance for Laurence-Moon syndrome

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Total variants: 3

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HGVS	dbSNP	gnomAD frequency
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

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