List of variants in gene combination LIPT1, MITD1 reported as uncertain significance for Inborn genetic diseases

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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: 25

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HGVS	dbSNP	gnomAD frequency
NM_145199.3(LIPT1):c.941C>T (p.Ala314Val)	rs191474531	0.00007
NM_145199.3(LIPT1):c.949C>G (p.His317Asp)	rs200526274	0.00006
NM_145199.3(LIPT1):c.935T>C (p.Ile312Thr)	rs766522720	0.00003
NM_145199.3(LIPT1):c.713A>G (p.Tyr238Cys)	rs187886723	0.00002
NM_145199.3(LIPT1):c.995T>C (p.Ile332Thr)	rs761062984	0.00002
NM_145199.3(LIPT1):c.551C>G (p.Thr184Ser)	rs1268486039	0.00001
NM_145199.3(LIPT1):c.643C>A (p.Leu215Ile)	rs766082343	0.00001
NM_145199.3(LIPT1):c.655G>T (p.Asp219Tyr)	rs764427280	0.00001
NM_145199.3(LIPT1):c.1013C>T (p.Pro338Leu)	rs2468670348
NM_145199.3(LIPT1):c.1018G>A (p.Glu340Lys)	rs2468670388
NM_145199.3(LIPT1):c.109A>T (p.Ile37Phe)	rs151267116
NM_145199.3(LIPT1):c.167A>G (p.Asn56Ser)
NM_145199.3(LIPT1):c.191T>G (p.Phe64Cys)
NM_145199.3(LIPT1):c.212C>G (p.Ser71Cys)	rs767568897
NM_145199.3(LIPT1):c.347C>T (p.Thr116Ile)
NM_145199.3(LIPT1):c.368A>T (p.Lys123Met)
NM_145199.3(LIPT1):c.446C>A (p.Thr149Asn)	rs2468663706
NM_145199.3(LIPT1):c.469G>A (p.Asp157Asn)
NM_145199.3(LIPT1):c.551C>T (p.Thr184Ile)
NM_145199.3(LIPT1):c.736C>G (p.His246Asp)	rs2093805866
NM_145199.3(LIPT1):c.898A>G (p.Ile300Val)
NM_145199.3(LIPT1):c.910A>T (p.Asn304Tyr)
NM_145199.3(LIPT1):c.946G>A (p.Asp316Asn)
NM_145199.3(LIPT1):c.971G>C (p.Arg324Pro)
NM_145199.3(LIPT1):c.977A>G (p.Lys326Arg)	rs2468670164

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