ClinVar Miner

List of variants reported as benign for cystinosis by Invitae

Included ClinVar conditions (7):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 21
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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_004937.3(CTNS):c.462T>C (p.Ser154=) rs77453839 0.05257
NM_004937.3(CTNS):c.970+15G>A rs76153698 0.03340
NM_004937.3(CTNS):c.124G>A (p.Val42Ile) rs35086888 0.01867
NM_004937.3(CTNS):c.-635G>C rs112140949 0.01378
NM_004937.3(CTNS):c.108C>T (p.Asn36=) rs117404824 0.00664
NM_004937.3(CTNS):c.462-7C>A rs189632527 0.00259
NM_004937.3(CTNS):c.327C>T (p.Thr109=) rs150554216 0.00141
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_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

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