List of variants in gene LINS1 reported as likely pathogenic for autosomal recessive non-syndromic intellectual disability

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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: 17

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HGVS	dbSNP	gnomAD frequency
NM_001040616.3(LINS1):c.1178T>G (p.Leu393Ter)	rs149644940	0.00001
NM_001040616.3(LINS1):c.1432G>T (p.Glu478Ter)	rs1163046936	0.00001
NM_001040616.3(LINS1):c.1222+2T>C
NM_001040616.3(LINS1):c.1424_1425del (p.Gln475fs)	rs2141262985
NM_001040616.3(LINS1):c.1605G>A (p.Trp535Ter)
NM_001040616.3(LINS1):c.1727_1736del (p.Arg576fs)	rs2141261531
NM_001040616.3(LINS1):c.1921_1923delinsAC (p.Glu641fs)
NM_001040616.3(LINS1):c.2134del (p.Arg711_Ile712insTer)
NM_001040616.3(LINS1):c.2185A>T (p.Lys729Ter)
NM_001040616.3(LINS1):c.2270T>A (p.Leu757Ter)	rs1383641417
NM_001040616.3(LINS1):c.431del (p.Leu144fs)	rs764442764
NM_001040616.3(LINS1):c.490-1G>C	rs768006727
NM_001040616.3(LINS1):c.557_558del (p.Lys186fs)	rs747412555
NM_001040616.3(LINS1):c.597del (p.Glu200fs)	rs1198074890
NM_001040616.3(LINS1):c.631+1G>A
NM_001040616.3(LINS1):c.717C>A (p.Cys239Ter)	rs1596891223
NM_001040616.3(LINS1):c.937G>A (p.Glu313Lys)	rs1057519019

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