List of variants in gene LSS reported as pathogenic for alopecia-intellectual disability syndrome 4

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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: 13

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HGVS	dbSNP	gnomAD frequency
NM_002340.6(LSS):c.1194+5G>A	rs748758448	0.00003
NM_002340.6(LSS):c.1547A>G (p.Asn516Ser)	rs148141905	0.00001
NM_002340.6(LSS):c.1016C>T (p.Ser339Leu)
NM_002340.6(LSS):c.1109+2T>C	rs2080164185
NM_002340.6(LSS):c.1522G>C (p.Gly508Arg)
NM_002340.6(LSS):c.1955C>T (p.Thr652Ile)
NM_002340.6(LSS):c.2114C>A (p.Thr705Lys)	rs746562872
NM_002340.6(LSS):c.304C>G (p.Leu102Val)	rs1569039353
NM_002340.6(LSS):c.35G>A (p.Gly12Asp)	rs763705074
NM_002340.6(LSS):c.423G>A (p.Trp141Ter)	rs1569036540
NM_002340.6(LSS):c.625A>T (p.Asn209Tyr)	rs754230211
NM_002340.6(LSS):c.647G>A (p.Trp216Ter)	rs745734847
NM_002340.6(LSS):c.779G>C (p.Arg260Pro)	rs570157673

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