ClinVar Miner

List of variants reported for Cystinosis by Natera, Inc.

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 66
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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.-634C>T rs138913261 0.05988
NM_004937.3(CTNS):c.462T>C (p.Ser154=) rs77453839 0.05257
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.116C>T (p.Ser39Leu) rs144751390 0.00219
NM_004937.3(CTNS):c.327C>T (p.Thr109=) rs150554216 0.00141
NM_004937.3(CTNS):c.220G>A (p.Asp74Asn) rs139364393 0.00116
NM_004937.3(CTNS):c.834G>A (p.Leu278=) rs139519275 0.00094
NM_004937.3(CTNS):c.461+10del rs377470989 0.00077
NM_004937.3(CTNS):c.695G>A (p.Arg232His) rs142641674 0.00072
NM_004937.3(CTNS):c.970G>A (p.Asp324Asn) rs140326392 0.00072
NM_004937.3(CTNS):c.534C>T (p.Ile178=) rs113967200 0.00058
NM_004937.3(CTNS):c.561+4C>T rs111256750 0.00040
NM_004937.3(CTNS):c.94G>A (p.Val32Ile) rs146684402 0.00036
NM_004937.3(CTNS):c.123C>T (p.Asn41=) rs148084080 0.00019
NM_004937.3(CTNS):c.833T>C (p.Leu278Pro) rs1314998853 0.00015
NM_004937.3(CTNS):c.480C>T (p.Phe160=) rs147565118 0.00012
NM_004937.3(CTNS):c.414G>A (p.Trp138Ter) rs113994205 0.00010
NM_004937.3(CTNS):c.684C>T (p.Arg228=) rs762346133 0.00009
NM_004937.3(CTNS):c.356G>A (p.Arg119His) rs375970075 0.00008
NM_004937.3(CTNS):c.-645C>T rs537110680 0.00005
NM_004937.3(CTNS):c.139C>T (p.Arg47Trp) rs201153770 0.00005
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.1015G>A (p.Gly339Arg) rs121908127 0.00004
NM_004937.3(CTNS):c.473T>C (p.Leu158Pro) rs113994206 0.00004
NM_004937.3(CTNS):c.510C>T (p.Phe170=) rs747488464 0.00004
NM_004937.3(CTNS):c.635C>T (p.Ala212Val) rs776658046 0.00004
NM_004937.3(CTNS):c.852+8C>T rs780856527 0.00004
NM_004937.3(CTNS):c.117G>A (p.Ser39=) rs765428193 0.00003
NM_004937.3(CTNS):c.621C>T (p.Phe207=) rs749428707 0.00003
NM_004937.3(CTNS):c.198_218del (p.Ile67_Pro73del) rs113994204 0.00002
NM_004937.3(CTNS):c.-643G>A rs887657778 0.00001
NM_004937.3(CTNS):c.140+3A>G rs778641729 0.00001
NM_004937.3(CTNS):c.270A>T (p.Thr90=) rs754247532 0.00001
NM_004937.3(CTNS):c.341G>A (p.Arg114His) rs559362332 0.00001
NM_004937.3(CTNS):c.386T>A (p.Val129Glu) rs1009882965 0.00001
NM_004937.3(CTNS):c.416C>T (p.Ser139Phe) rs267606754 0.00001
NM_004937.3(CTNS):c.454C>T (p.Arg152Trp) rs754433265 0.00001
NM_004937.3(CTNS):c.613G>A (p.Asp205Asn) rs113994208 0.00001
NM_004937.3(CTNS):c.634G>A (p.Ala212Thr) rs768600603 0.00001
NM_004937.3(CTNS):c.646dup (p.Thr216fs) rs893207601 0.00001
NM_004937.3(CTNS):c.681+1G>A rs749317721 0.00001
NM_004937.3(CTNS):c.897T>C (p.Ile299=) rs199824920 0.00001
NM_004937.3(CTNS):c.922G>A (p.Gly308Arg) rs746307931 0.00001
NM_004937.3(CTNS):c.966C>T (p.Asn322=) rs767301567 0.00001
NM_004937.3(CTNS):c.1029C>A (p.Ile343=) rs147428183
NM_004937.3(CTNS):c.1029C>T (p.Ile343=) rs147428183
NM_004937.3(CTNS):c.1045TTC[1] (p.Phe350del) rs2076255711
NM_004937.3(CTNS):c.1082C>T (p.Pro361Leu) rs560868487
NM_004937.3(CTNS):c.18_21del (p.Thr7fs) rs786204501
NM_004937.3(CTNS):c.226G>A (p.Val76Ile) rs1567709217
NM_004937.3(CTNS):c.433C>T (p.Gln145Ter) rs2076101632
NM_004937.3(CTNS):c.534C>G (p.Ile178Met) rs113967200
NM_004937.3(CTNS):c.554A>T (p.Tyr185Phe) rs886038378
NM_004937.3(CTNS):c.681G>A (p.Glu227=) rs778414542
NM_004937.3(CTNS):c.771_793del (p.Gly258fs) rs759623796
NM_004937.3(CTNS):c.829dup (p.Thr277fs) rs752919200
NM_004937.3(CTNS):c.909C>T (p.Leu303=) rs1252160181
NM_004937.3(CTNS):c.926dup (p.Ser310fs) rs786204420
NM_004937.3(CTNS):c.969C>T (p.Asn323=) rs121908128
NM_004937.3(CTNS):c.971-12G>A rs375952052

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