List of variants reported as likely pathogenic for cystinosis

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Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 95

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HGVS	dbSNP	gnomAD frequency
NM_004937.3(CTNS):c.473T>C (p.Leu158Pro)	rs113994206	0.00004
NM_004937.3(CTNS):c.589G>A (p.Gly197Arg)	rs113994207	0.00004
NM_004937.3(CTNS):c.198_218del (p.Ile67_Pro73del)	rs113994204	0.00002
NM_004937.3(CTNS):c.416C>T (p.Ser139Phe)	rs267606754	0.00001
NM_004937.3(CTNS):c.61+2T>C	rs767289120	0.00001
NM_004937.3(CTNS):c.634G>A (p.Ala212Thr)	rs768600603	0.00001
NC_000017.10:g.(?_3539761)_(3566398_?)del
NM_004937.3(CTNS):c.-19-1G>A	rs1555558034
NM_004937.3(CTNS):c.1036_1047del (p.Asp346_Phe349del)
NM_004937.3(CTNS):c.1102T>C (p.Ter368Gln)	rs1057517330
NM_004937.3(CTNS):c.120dup (p.Asn41fs)
NM_004937.3(CTNS):c.140+1G>C
NM_004937.3(CTNS):c.140+1_140+20del
NM_004937.3(CTNS):c.140+2T>C	rs2075872773
NM_004937.3(CTNS):c.141-1G>A	rs2075906916
NM_004937.3(CTNS):c.199_219del (p.Ile67_Pro73del)	rs786204550
NM_004937.3(CTNS):c.20del (p.Thr7fs)	rs1555558078
NM_004937.3(CTNS):c.225+1G>A	rs1555561049
NM_004937.3(CTNS):c.225+3A>T
NM_004937.3(CTNS):c.225+5G>A
NM_004937.3(CTNS):c.225+5_225+6delinsCC	rs786204541
NM_004937.3(CTNS):c.225+5_225+8del	rs1555561048
NM_004937.3(CTNS):c.226-1G>A
NM_004937.3(CTNS):c.226-1G>C
NM_004937.3(CTNS):c.236del (p.Pro79fs)
NM_004937.3(CTNS):c.251del (p.Asn84fs)	rs1057516296
NM_004937.3(CTNS):c.286C>T (p.Gln96Ter)
NM_004937.3(CTNS):c.292dup (p.Thr98fs)	rs786204434
NM_004937.3(CTNS):c.300T>A (p.Tyr100Ter)	rs376042415
NM_004937.3(CTNS):c.320_323del (p.Asn107fs)	rs1555562830
NM_004937.3(CTNS):c.323del (p.Gln108fs)	rs879255615
NM_004937.3(CTNS):c.329+2T>C	rs955833453
NM_004937.3(CTNS):c.382C>T (p.Gln128Ter)	rs550254092
NM_004937.3(CTNS):c.395G>A (p.Trp132Ter)
NM_004937.3(CTNS):c.402C>G (p.Tyr134Ter)	rs2076100759
NM_004937.3(CTNS):c.40del (p.Pro13_Leu14insTer)	rs1555558099
NM_004937.3(CTNS):c.415T>C (p.Ser139Pro)
NM_004937.3(CTNS):c.422C>T (p.Ser141Phe)	rs1436441738
NM_004937.3(CTNS):c.423del (p.Phe142fs)	rs1567709909
NM_004937.3(CTNS):c.429C>A (p.Tyr143Ter)	rs1597647930
NM_004937.3(CTNS):c.451A>G (p.Arg151Gly)	rs1555563010
NM_004937.3(CTNS):c.462-1G>A
NM_004937.3(CTNS):c.506G>A (p.Gly169Asp)	rs121908126
NM_004937.3(CTNS):c.517T>C (p.Tyr173His)
NM_004937.3(CTNS):c.530A>G (p.Asn177Ser)
NM_004937.3(CTNS):c.544T>C (p.Trp182Arg)	rs764168489
NM_004937.3(CTNS):c.546G>A (p.Trp182Ter)
NM_004937.3(CTNS):c.546G>T (p.Trp182Cys)	rs2150922764
NM_004937.3(CTNS):c.559_561+24del	rs113994211
NM_004937.3(CTNS):c.561+1del	rs786204667
NM_004937.3(CTNS):c.562-1G>C
NM_004937.3(CTNS):c.562-2A>G
NM_004937.3(CTNS):c.562-2_562-1del	rs1555563521
NM_004937.3(CTNS):c.565C>T (p.Gln189Ter)	rs1597654770
NM_004937.3(CTNS):c.587dup (p.Asn196fs)	rs1597654857
NM_004937.3(CTNS):c.592del (p.Gly197_Val198insTer)	rs1555563568
NM_004937.3(CTNS):c.600del (p.Pro200_Val201insTer)
NM_004937.3(CTNS):c.61+1G>A	rs1555558116
NM_004937.3(CTNS):c.61+1G>T	rs1555558116
NM_004937.3(CTNS):c.611ACG[1] (p.Asp205del)	rs760256854
NM_004937.3(CTNS):c.61G>T (p.Glu21Ter)	rs2150889009
NM_004937.3(CTNS):c.61_61+2del	rs2075652654
NM_004937.3(CTNS):c.62-2A>G	rs1555560637
NM_004937.3(CTNS):c.646_647insAA (p.Thr216fs)
NM_004937.3(CTNS):c.672C>A (p.Cys224Ter)
NM_004937.3(CTNS):c.681+1del	rs1555563658
NM_004937.3(CTNS):c.681+2T>C	rs1057516723
NM_004937.3(CTNS):c.682-1G>A	rs1057516771
NM_004937.3(CTNS):c.682-1G>T	rs1057516771
NM_004937.3(CTNS):c.691C>T (p.Gln231Ter)	rs1463026342
NM_004937.3(CTNS):c.696_697dup (p.Val233fs)	rs1555563982
NM_004937.3(CTNS):c.734G>A (p.Trp245Ter)	rs763089013
NM_004937.3(CTNS):c.73A>T (p.Ser25Cys)	rs777367316
NM_004937.3(CTNS):c.768dup (p.Val257fs)	rs1567713938
NM_004937.3(CTNS):c.771_793del (p.Gly258fs)	rs759623796
NM_004937.3(CTNS):c.785G>A (p.Trp262Ter)
NM_004937.3(CTNS):c.809C>T (p.Ser270Phe)	rs2150925336
NM_004937.3(CTNS):c.809_811del (p.Ser270del)	rs786204632
NM_004937.3(CTNS):c.814_818delinsT (p.Ile272fs)
NM_004937.3(CTNS):c.839A>G (p.Lys280Arg)	rs2150925451
NM_004937.3(CTNS):c.850C>T (p.Gln284Ter)
NM_004937.3(CTNS):c.852+1G>A	rs2150925483
NM_004937.3(CTNS):c.853-1G>A	rs1555564588
NM_004937.3(CTNS):c.853-2A>G	rs1475322504
NM_004937.3(CTNS):c.864C>A (p.Asn288Lys)
NM_004937.3(CTNS):c.869dup (p.Tyr290Ter)	rs1555564600
NM_004937.3(CTNS):c.870C>G (p.Tyr290Ter)	rs776842972
NM_004937.3(CTNS):c.877dup (p.Ser293fs)
NM_004937.3(CTNS):c.926dup (p.Ser310fs)	rs786204420
NM_004937.3(CTNS):c.955C>T (p.Gln319Ter)
NM_004937.3(CTNS):c.963del (p.Ser320_Tyr321insTer)
NM_004937.3(CTNS):c.971-1G>C	rs2142982540
NM_004937.3(CTNS):c.971-1dup	rs1555564823
NM_004937.3(CTNS):c.971-2dup
NM_004937.3(CTNS):c.977G>A (p.Trp326Ter)

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