ClinVar Miner

List of variants reported as likely pathogenic for inborn disorder of lysosomal amino acid transport by Labcorp Genetics (formerly Invitae), Labcorp

Included ClinVar conditions (15):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 65
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HGVS dbSNP gnomAD frequency
NM_005476.7(GNE):c.1003C>T (p.Arg335Trp) rs150132839 0.00002
NM_005476.7(GNE):c.302G>A (p.Arg101His) rs144727134 0.00002
NM_004937.3(CTNS):c.61+2T>C rs767289120 0.00001
NM_004937.3(CTNS):c.634G>A (p.Ala212Thr) rs768600603 0.00001
NM_005476.7(GNE):c.1523T>C (p.Leu508Ser) rs1057516798 0.00001
NM_005476.7(GNE):c.1525C>T (p.His509Tyr) rs754892377 0.00001
NM_005476.7(GNE):c.2096C>T (p.Ser699Leu) rs552758282 0.00001
NM_005476.7(GNE):c.301C>T (p.Arg101Cys) rs148523065 0.00001
NM_005476.7(GNE):c.893T>C (p.Ile298Thr) rs757091387 0.00001
NM_012434.5(SLC17A5):c.1109_1111+2del rs1767805645 0.00001
NM_012434.5(SLC17A5):c.1111+1G>A rs777862172 0.00001
NM_012434.5(SLC17A5):c.116G>A (p.Arg39His) rs769235753 0.00001
NM_012434.5(SLC17A5):c.1355_1356insAA (p.Val453fs) rs1234745577 0.00001
NM_012434.5(SLC17A5):c.500T>C (p.Leu167Pro) rs587779410 0.00001
NC_000006.11:g.(?_74310064)_(74310174_?)dup
NC_000006.11:g.(?_74345119)_(74347569_?)del
NC_000006.12:g.(?_73610390)_(73615457_?)dup
NC_000009.11:g.(?_36229008)_(36236991_?)dup
NC_000009.11:g.(?_36229008)_(36249404_?)dup
NC_000009.11:g.(?_36246018)_(36249404_?)dup
NC_000009.12:g.(?_36227238)_(36227468_?)dup
NC_000017.10:g.(?_3550718)_(3552245_?)dup
NM_001128227.3(GNE):c.51+2T>A
NM_004937.3(CTNS):c.141-1G>A rs2075906916
NM_004937.3(CTNS):c.225+3A>T
NM_004937.3(CTNS):c.225+5G>A
NM_004937.3(CTNS):c.225+5_225+8del rs1555561048
NM_004937.3(CTNS):c.226-1G>C
NM_004937.3(CTNS):c.415T>C (p.Ser139Pro)
NM_004937.3(CTNS):c.506G>A (p.Gly169Asp) rs121908126
NM_004937.3(CTNS):c.517T>C (p.Tyr173His)
NM_004937.3(CTNS):c.544T>C (p.Trp182Arg) rs764168489
NM_004937.3(CTNS):c.546G>T (p.Trp182Cys) rs2150922764
NM_004937.3(CTNS):c.562-1G>C
NM_004937.3(CTNS):c.61+1G>T rs1555558116
NM_004937.3(CTNS):c.809C>T (p.Ser270Phe) rs2150925336
NM_004937.3(CTNS):c.852+1G>A rs2150925483
NM_004937.3(CTNS):c.853-1G>A rs1555564588
NM_005476.7(GNE):c.1070+2dup rs886043636
NM_005476.7(GNE):c.1071-1G>A
NM_005476.7(GNE):c.1071-2A>C
NM_005476.7(GNE):c.1262T>C (p.Val421Ala) rs1057516364
NM_005476.7(GNE):c.1411+1G>C
NM_005476.7(GNE):c.1583T>G (p.Phe528Cys) rs986773986
NM_005476.7(GNE):c.1670T>C (p.Ile557Thr) rs886043979
NM_005476.7(GNE):c.1817-2A>G
NM_005476.7(GNE):c.211A>T (p.Arg71Trp) rs886044539
NM_005476.7(GNE):c.616+1G>A
NM_005476.7(GNE):c.616G>A (p.Gly206Ser) rs766266918
NM_005476.7(GNE):c.617-1G>A rs1256419231
NM_005476.7(GNE):c.622G>A (p.Asp208Asn)
NM_005476.7(GNE):c.982+2T>A rs2133067872
NM_012434.5(SLC17A5):c.1001C>G (p.Pro334Arg) rs119491110
NM_012434.5(SLC17A5):c.1111+1G>T rs777862172
NM_012434.5(SLC17A5):c.1226G>A (p.Gly409Glu) rs386833989
NM_012434.5(SLC17A5):c.169C>T (p.Arg57Cys) rs754150739
NM_012434.5(SLC17A5):c.1A>G (p.Met1Val) rs1304456183
NM_012434.5(SLC17A5):c.407A>G (p.Lys136Arg)
NM_012434.5(SLC17A5):c.613+1G>A rs1769124033
NM_012434.5(SLC17A5):c.700+2T>C rs1440688652
NM_012434.5(SLC17A5):c.786A>C (p.Glu262Asp) rs1768948534
NM_012434.5(SLC17A5):c.94+1G>A
NM_012434.5(SLC17A5):c.94+2T>A rs1769984400
NM_012434.5(SLC17A5):c.978+1G>A rs2150099218
NM_012434.5(SLC17A5):c.979-2A>G rs1554162230

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