List of variants in gene UNC119 reported as uncertain significance for not provided

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 94

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HGVS	dbSNP	gnomAD frequency
NM_005148.4(UNC119):c.502C>T (p.Arg168Cys)	rs146916036	0.00053
NM_005148.4(UNC119):c.371A>G (p.Asn124Ser)	rs374271322	0.00013
NM_005148.4(UNC119):c.600C>T (p.Ser200=)	rs142549864	0.00010
NM_005148.4(UNC119):c.626G>A (p.Arg209His)	rs375147970	0.00010
NM_005148.4(UNC119):c.355C>T (p.Arg119Trp)	rs139497685	0.00007
NM_005148.4(UNC119):c.712G>A (p.Gly238Arg)	rs143353275	0.00007
NM_005148.4(UNC119):c.370A>G (p.Asn124Asp)	rs773311477	0.00005
NM_005148.4(UNC119):c.379C>T (p.Arg127Cys)	rs761823478	0.00004
NM_005148.4(UNC119):c.625C>T (p.Arg209Cys)	rs531404546	0.00004
NM_005148.4(UNC119):c.281G>A (p.Arg94Gln)	rs763481567	0.00003
NM_005148.4(UNC119):c.388C>T (p.Arg130Cys)	rs200895223	0.00003
NM_005148.4(UNC119):c.674G>A (p.Arg225Gln)	rs372687395	0.00003
NM_005148.4(UNC119):c.259G>A (p.Asp87Asn)	rs762433273	0.00002
NM_005148.4(UNC119):c.353G>A (p.Arg118Gln)	rs368608427	0.00002
NM_005148.4(UNC119):c.526G>A (p.Asp176Asn)	rs772710984	0.00002
NM_005148.4(UNC119):c.217G>A (p.Gly73Ser)	rs900462989	0.00001
NM_005148.4(UNC119):c.226C>T (p.Leu76Phe)	rs1226515301	0.00001
NM_005148.4(UNC119):c.242del (p.Glu81fs)	rs1207082173	0.00001
NM_005148.4(UNC119):c.280C>T (p.Arg94Trp)	rs764558972	0.00001
NM_005148.4(UNC119):c.352C>T (p.Arg118Trp)	rs752943228	0.00001
NM_005148.4(UNC119):c.358G>T (p.Asp120Tyr)	rs912762781	0.00001
NM_005148.4(UNC119):c.380G>A (p.Arg127His)	rs1449809472	0.00001
NM_005148.4(UNC119):c.401C>T (p.Thr134Met)	rs780859514	0.00001
NM_005148.4(UNC119):c.419T>G (p.Leu140Arg)	rs199705690	0.00001
NM_005148.4(UNC119):c.437+1G>A	rs761866874	0.00001
NM_005148.4(UNC119):c.437C>T (p.Thr146Met)	rs767590360	0.00001
NM_005148.4(UNC119):c.452T>C (p.Val151Ala)	rs201561039	0.00001
NM_005148.4(UNC119):c.478C>T (p.Arg160Cys)	rs780605701	0.00001
NM_005148.4(UNC119):c.479G>A (p.Arg160His)	rs986396601	0.00001
NM_005148.4(UNC119):c.503G>A (p.Arg168His)	rs140667534	0.00001
NM_005148.4(UNC119):c.506A>G (p.Asn169Ser)	rs184171969	0.00001
NM_005148.4(UNC119):c.571G>A (p.Glu191Lys)	rs1405456098	0.00001
NM_005148.4(UNC119):c.610+5G>A	rs1035088427	0.00001
NM_005148.4(UNC119):c.632C>T (p.Pro211Leu)	rs749424586	0.00001
NM_005148.4(UNC119):c.208C>T (p.Arg70Trp)
NM_005148.4(UNC119):c.230G>A (p.Cys77Tyr)	rs2151508030
NM_005148.4(UNC119):c.232T>C (p.Ser78Pro)
NM_005148.4(UNC119):c.243G>T (p.Glu81Asp)	rs2151508011
NM_005148.4(UNC119):c.254A>C (p.Lys85Thr)
NM_005148.4(UNC119):c.281G>C (p.Arg94Pro)	rs763481567
NM_005148.4(UNC119):c.281G>T (p.Arg94Leu)	rs763481567
NM_005148.4(UNC119):c.286A>G (p.Met96Val)
NM_005148.4(UNC119):c.293C>T (p.Ser98Leu)
NM_005148.4(UNC119):c.325C>T (p.Pro109Ser)
NM_005148.4(UNC119):c.334+1dup
NM_005148.4(UNC119):c.334+4A>G
NM_005148.4(UNC119):c.337C>T (p.Arg113Trp)	rs771156231
NM_005148.4(UNC119):c.338G>A (p.Arg113Gln)
NM_005148.4(UNC119):c.362T>C (p.Leu121Pro)	rs1436225955
NM_005148.4(UNC119):c.384T>A (p.Phe128Leu)
NM_005148.4(UNC119):c.386T>C (p.Val129Ala)	rs2070229696
NM_005148.4(UNC119):c.409T>C (p.Phe137Leu)	rs2151507597
NM_005148.4(UNC119):c.415C>A (p.Arg139Ser)	rs754193171
NM_005148.4(UNC119):c.415C>T (p.Arg139Cys)	rs754193171
NM_005148.4(UNC119):c.416G>A (p.Arg139His)	rs201337554
NM_005148.4(UNC119):c.423_433dup (p.Ala145fs)
NM_005148.4(UNC119):c.437+1G>T	rs761866874
NM_005148.4(UNC119):c.439G>A (p.Val147Met)
NM_005148.4(UNC119):c.439G>C (p.Val147Leu)	rs759458653
NM_005148.4(UNC119):c.459C>A (p.Asp153Glu)	rs2151507456
NM_005148.4(UNC119):c.469A>C (p.Asn157His)	rs1333185868
NM_005148.4(UNC119):c.479G>T (p.Arg160Leu)
NM_005148.4(UNC119):c.481A>G (p.Met161Val)	rs1317539504
NM_005148.4(UNC119):c.486C>G (p.Ile162Met)	rs781446944
NM_005148.4(UNC119):c.487G>T (p.Glu163Ter)	rs930130211
NM_005148.4(UNC119):c.503G>T (p.Arg168Leu)	rs140667534
NM_005148.4(UNC119):c.509A>G (p.Gln170Arg)	rs561712812
NM_005148.4(UNC119):c.521G>C (p.Ser174Thr)
NM_005148.4(UNC119):c.551C>A (p.Pro184His)
NM_005148.4(UNC119):c.559A>G (p.Lys187Glu)
NM_005148.4(UNC119):c.564C>G (p.Asn188Lys)
NM_005148.4(UNC119):c.571G>C (p.Glu191Gln)	rs1405456098
NM_005148.4(UNC119):c.574C>G (p.His192Asp)
NM_005148.4(UNC119):c.584A>T (p.Asp195Val)
NM_005148.4(UNC119):c.586T>A (p.Phe196Ile)	rs145972313
NM_005148.4(UNC119):c.586T>C (p.Phe196Leu)	rs145972313
NM_005148.4(UNC119):c.592C>G (p.Pro198Ala)	rs748275791
NM_005148.4(UNC119):c.592C>T (p.Pro198Ser)	rs748275791
NM_005148.4(UNC119):c.593_594insG (p.Leu199fs)
NM_005148.4(UNC119):c.601G>A (p.Glu201Lys)	rs764936506
NM_005148.4(UNC119):c.610+14G>T
NM_005148.4(UNC119):c.610+6C>T
NM_005148.4(UNC119):c.610+9G>T
NM_005148.4(UNC119):c.616G>A (p.Glu206Lys)
NM_005148.4(UNC119):c.631C>A (p.Pro211Thr)
NM_005148.4(UNC119):c.655T>G (p.Phe219Val)
NM_005148.4(UNC119):c.673C>T (p.Arg225Trp)
NM_005148.4(UNC119):c.680T>G (p.Val227Gly)	rs750759432
NM_005148.4(UNC119):c.694G>A (p.Ala232Thr)
NM_005148.4(UNC119):c.695C>T (p.Ala232Val)
NM_005148.4(UNC119):c.711C>G (p.Ser237Arg)	rs767981770
NM_005148.4(UNC119):c.713G>A (p.Gly238Glu)
NM_005148.4(UNC119):c.716C>T (p.Thr239Ile)
NM_005148.4(UNC119):c.718C>T (p.Pro240Ser)

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