ClinVar Miner

List of variants reported as benign 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: 41
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HGVS dbSNP gnomAD frequency
NM_004937.3(CTNS):c.779C>T (p.Thr260Ile) rs161400 0.84806
NM_004937.3(CTNS):c.504G>A (p.Thr168=) rs1800528 0.14800
NM_012434.5(SLC17A5):c.246G>A (p.Ala82=) rs472294 0.10691
NM_012434.5(SLC17A5):c.606A>G (p.Ser202=) rs3757112 0.05389
NM_004937.3(CTNS):c.462T>C (p.Ser154=) rs77453839 0.05257
NM_004937.3(CTNS):c.970+15G>A rs76153698 0.03340
NM_005476.7(GNE):c.600C>T (p.Ile200=) rs7047950 0.02902
NM_012434.5(SLC17A5):c.1111+7G>A rs146729568 0.01982
NM_004937.3(CTNS):c.124G>A (p.Val42Ile) rs35086888 0.01867
NM_005476.7(GNE):c.1770C>T (p.Tyr590=) rs111302956 0.01688
NM_004937.3(CTNS):c.-635G>C rs112140949 0.01378
NM_012434.5(SLC17A5):c.886G>A (p.Val296Ile) rs16883930 0.01342
NM_001128227.3(GNE):c.-10G>A rs73449614 0.00894
NM_004937.3(CTNS):c.108C>T (p.Asn36=) rs117404824 0.00664
NM_012434.5(SLC17A5):c.33C>T (p.Asn11=) rs139255194 0.00433
NM_005476.7(GNE):c.624T>G (p.Asp208Glu) rs35224402 0.00389
NM_004937.3(CTNS):c.462-7C>A rs189632527 0.00259
NM_004937.3(CTNS):c.327C>T (p.Thr109=) rs150554216 0.00141
NM_012434.5(SLC17A5):c.85G>A (p.Ala29Thr) rs141463026 0.00098
NM_004937.3(CTNS):c.834G>A (p.Leu278=) rs139519275 0.00094
NM_004937.3(CTNS):c.516C>T (p.Ala172=) rs143405190 0.00068
NM_004937.3(CTNS):c.534C>T (p.Ile178=) rs113967200 0.00058
NM_012434.5(SLC17A5):c.1112-18A>G rs751782561 0.00049
NM_012434.5(SLC17A5):c.957C>A (p.Ile319=) rs147732875 0.00041
NM_001128227.3(GNE):c.51+17T>G rs144416128 0.00014
NM_004937.3(CTNS):c.356G>A (p.Arg119His) rs375970075 0.00008
NM_004937.3(CTNS):c.461+16G>A rs201772152 0.00008
NM_004937.3(CTNS):c.285A>T (p.Gly95=) rs373998956 0.00005
NM_004937.3(CTNS):c.364G>A (p.Ala122Thr) rs187396540 0.00005
NM_004937.3(CTNS):c.822C>T (p.Leu274=) rs150773117 0.00001
NM_004937.3(CTNS):c.681+22del
NM_004937.3(CTNS):c.682-3del
NM_004937.3(CTNS):c.682-3dup rs2150924916
NM_004937.3(CTNS):c.971-13dup
NM_005476.7(GNE):c.1633+17dup
NM_012434.5(SLC17A5):c.1351-15del rs1341837566
NM_012434.5(SLC17A5):c.1351-15dup
NM_012434.5(SLC17A5):c.291+16dup
NM_012434.5(SLC17A5):c.94+13del
NM_012434.5(SLC17A5):c.95-19del
NM_012434.5(SLC17A5):c.978+11dup rs2150099214

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