List of variants in gene LHFPL5 reported as pathogenic for autosomal recessive disease

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Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 9

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HGVS	dbSNP	gnomAD frequency
NM_182548.4(LHFPL5):c.494C>T (p.Thr165Met)	rs104893976	0.00010
NM_182548.4(LHFPL5):c.380A>G (p.Tyr127Cys)	rs104893975	0.00003
NM_182548.4(LHFPL5):c.452G>T (p.Gly151Val)	rs762876554	0.00001
NM_182548.4(LHFPL5):c.*16+1G>A	rs1445573930
NM_182548.4(LHFPL5):c.1A>G (p.Met1Val)	rs1060499810
NM_182548.4(LHFPL5):c.250del (p.Pro83_Leu84insTer)	rs779841884
NM_182548.4(LHFPL5):c.462_472dup (p.Arg158fs)	rs2151070794
NM_182548.4(LHFPL5):c.575T>C (p.Leu192Pro)	rs1554147220
NM_182548.4(LHFPL5):c.649+1del	rs1581972457

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