List of variants reported as uncertain significance for Renal carnitine transport defect by Counsyl

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		ClinVar version:

Total variants: 28

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HGVS	dbSNP	gnomAD frequency
NM_003060.4(SLC22A5):c.1463G>A (p.Arg488His)	rs28383481	0.00347
NM_003060.4(SLC22A5):c.364G>T (p.Asp122Tyr)	rs201082652	0.00043
NM_003060.4(SLC22A5):c.529A>G (p.Met177Val)	rs145068530	0.00028
NM_003060.4(SLC22A5):c.1587-11T>G	rs772775759	0.00003
NM_003060.4(SLC22A5):c.451G>A (p.Val151Met)	rs386134193	0.00003
NM_003060.4(SLC22A5):c.1139C>T (p.Ala380Val)	rs746187344	0.00001
NM_003060.4(SLC22A5):c.1409C>T (p.Ser470Phe)	rs386134222	0.00001
NM_003060.4(SLC22A5):c.394-16T>A	rs775097754	0.00001
NM_003060.4(SLC22A5):c.557T>C (p.Leu186Pro)	rs386134197	0.00001
NM_003060.4(SLC22A5):c.-129_-102del	rs1279199437
NM_003060.4(SLC22A5):c.-131A>C	rs1554085854
NM_003060.4(SLC22A5):c.-25C>T	rs886059907
NM_003060.4(SLC22A5):c.1052+5G>A	rs927950152
NM_003060.4(SLC22A5):c.1078_1083dup (p.Gly360_Leu361dup)	rs896634334
NM_003060.4(SLC22A5):c.1267+3_1267+24del	rs1554088199
NM_003060.4(SLC22A5):c.1324_1325delinsAT (p.Ala442Ile)	rs267607053
NM_003060.4(SLC22A5):c.1674A>C (p.Ter558Tyr)	rs1554088647
NM_003060.4(SLC22A5):c.344A>G (p.Asp115Gly)	rs386134192
NM_003060.4(SLC22A5):c.393+5G>A	rs1554086029
NM_003060.4(SLC22A5):c.412GAC[1] (p.Asp139del)	rs1554086841
NM_003060.4(SLC22A5):c.43_45dup (p.Gly15dup)	rs1554085901
NM_003060.4(SLC22A5):c.535A>T (p.Met179Leu)	rs386134196
NM_003060.4(SLC22A5):c.56G>C (p.Arg19Pro)	rs72552723
NM_003060.4(SLC22A5):c.614T>A (p.Met205Lys)	rs796052033
NM_003060.4(SLC22A5):c.725G>T (p.Gly242Val)	rs72552728
NM_003060.4(SLC22A5):c.800G>A (p.Gly267Glu)	rs775430253
NM_003060.4(SLC22A5):c.842C>T (p.Pro281Leu)	rs1064793269
NM_003060.4(SLC22A5):c.865_867del (p.Arg289del)	rs1554087707

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