List of variants in gene SLC25A15 reported as pathogenic for amino acid metabolism disease

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: 51

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HGVS	dbSNP	gnomAD frequency
NM_014252.4(SLC25A15):c.823C>T (p.Arg275Ter)	rs202247807	0.00006
NM_014252.4(SLC25A15):c.535C>T (p.Arg179Ter)	rs104894429	0.00005
NM_014252.4(SLC25A15):c.815C>T (p.Thr272Ile)	rs121908535	0.00004
NM_014252.4(SLC25A15):c.337G>A (p.Gly113Ser)	rs199894905	0.00003
NM_014252.4(SLC25A15):c.538G>A (p.Glu180Lys)	rs104894424	0.00002
NM_014252.4(SLC25A15):c.79G>A (p.Gly27Arg)	rs104894430	0.00002
NM_014252.4(SLC25A15):c.22C>T (p.Gln8Ter)	rs1448259297	0.00001
NM_014252.4(SLC25A15):c.521C>A (p.Ser174Ter)	rs200873328	0.00001
NM_014252.4(SLC25A15):c.824G>A (p.Arg275Gln)	rs104894431	0.00001
NC_000013.10:g.(?_41367353)_(41367427_?)del
NC_000013.10:g.(?_41379234)_(41383803_?)del
NC_000013.10:g.(?_41379234)_(41383823_?)del
NC_000013.10:g.(?_41381410)_(41381619_?)del
NM_014252.4(SLC25A15):c.110T>G (p.Met37Arg)	rs121908533
NM_014252.4(SLC25A15):c.112C>T (p.Gln38Ter)
NM_014252.4(SLC25A15):c.113_116dup (p.Phe40fs)	rs756522093
NM_014252.4(SLC25A15):c.1A>G (p.Met1Val)
NM_014252.4(SLC25A15):c.212T>A (p.Leu71Gln)	rs121908534
NM_014252.4(SLC25A15):c.236C>G (p.Ser79Ter)	rs2138045987
NM_014252.4(SLC25A15):c.265C>T (p.Gln89Ter)
NM_014252.4(SLC25A15):c.326_452+374del
NM_014252.4(SLC25A15):c.326del (p.Asn109fs)
NM_014252.4(SLC25A15):c.403C>T (p.Gln135Ter)
NM_014252.4(SLC25A15):c.408del (p.Met137fs)	rs780201405
NM_014252.4(SLC25A15):c.446del (p.Ser149fs)	rs1566123619
NM_014252.4(SLC25A15):c.494_495insGGTTCTA (p.Pro166fs)	rs2138056681
NM_014252.4(SLC25A15):c.498del (p.Leu167fs)	rs2138056689
NM_014252.4(SLC25A15):c.514G>T (p.Gly172Ter)	rs1480063127
NM_014252.4(SLC25A15):c.525dup (p.Thr176fs)
NM_014252.4(SLC25A15):c.553TTC[3] (p.Phe188del)	rs202247803
NM_014252.4(SLC25A15):c.554_557del (p.Phe185fs)	rs1882233400
NM_014252.4(SLC25A15):c.564C>G (p.Phe188Leu)	rs141028076
NM_014252.4(SLC25A15):c.570del (p.Tyr191fs)	rs2138056832
NM_014252.4(SLC25A15):c.594dup (p.Ala199fs)
NM_014252.4(SLC25A15):c.59del (p.Gly20fs)	rs1566121215
NM_014252.4(SLC25A15):c.639_640del (p.Met213fs)	rs2138057963
NM_014252.4(SLC25A15):c.658G>A (p.Gly220Arg)	rs202247805
NM_014252.4(SLC25A15):c.669del (p.Trp224fs)
NM_014252.4(SLC25A15):c.672G>A (p.Trp224Ter)	rs1593295876
NM_014252.4(SLC25A15):c.727_730dup (p.Gly244fs)
NM_014252.4(SLC25A15):c.755_756insA (p.Phe253fs)
NM_014252.4(SLC25A15):c.76del (p.Thr26fs)	rs2138045649
NM_014252.4(SLC25A15):c.776dup (p.Asn259fs)
NM_014252.4(SLC25A15):c.778G>T (p.Glu260Ter)	rs1882296594
NM_014252.4(SLC25A15):c.781+1G>A
NM_014252.4(SLC25A15):c.781+2T>A
NM_014252.4(SLC25A15):c.862dup (p.Glu288fs)
NM_014252.4(SLC25A15):c.95C>G (p.Thr32Arg)	rs121908536
NM_014252.4(SLC25A15):c.95_96dup (p.Met33fs)
NM_014252.4(SLC25A15):c.97del (p.Thr32_Met33insTer)
NM_014252.4(SLC25A15):c.98_101del (p.Met33fs)

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