ClinVar Miner

List of variants in gene CTSD reported as uncertain significance by GeneDx

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Total variants: 34
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HGVS dbSNP
GRCh37/hg19 11p15.5(chr11:1774508-1785629)x3
NM_001909.5(CTSD):c.1009G>A (p.Ala337Thr) rs147800688
NM_001909.5(CTSD):c.100C>T (p.Arg34Trp) rs779278368
NM_001909.5(CTSD):c.1010C>T (p.Ala337Val) rs1057518324
NM_001909.5(CTSD):c.1028G>A (p.Gly343Glu) rs796052406
NM_001909.5(CTSD):c.1150A>G (p.Ile384Val) rs767863175
NM_001909.5(CTSD):c.1162G>A (p.Val388Ile) rs202073338
NM_001909.5(CTSD):c.1202A>G (p.Asn401Ser) rs147553344
NM_001909.5(CTSD):c.1210G>T (p.Val404Leu) rs750489880
NM_001909.5(CTSD):c.1211T>G (p.Val404Gly) rs796052399
NM_001909.5(CTSD):c.131A>T (p.Glu44Val) rs1554963026
NM_001909.5(CTSD):c.135C>G (p.Asp45Glu) rs573939509
NM_001909.5(CTSD):c.229-19G>A rs368152533
NM_001909.5(CTSD):c.241G>A (p.Gly81Arg) rs199551387
NM_001909.5(CTSD):c.283G>A (p.Val95Ile) rs141482597
NM_001909.5(CTSD):c.376G>A (p.Asp126Asn) rs796052401
NM_001909.5(CTSD):c.443C>T (p.Ser148Phe) rs796052402
NM_001909.5(CTSD):c.52G>C (p.Ala18Pro) rs796052403
NM_001909.5(CTSD):c.561C>T (p.Gly187=) rs796052405
NM_001909.5(CTSD):c.653T>C (p.Leu218Pro) rs1131691905
NM_001909.5(CTSD):c.704+5G>A rs1064796905
NM_001909.5(CTSD):c.758A>G (p.Lys253Arg) rs138191189
NM_001909.5(CTSD):c.76C>A (p.Leu26Met) rs1029534680
NM_001909.5(CTSD):c.770G>C (p.Gly257Ala) rs1057518289
NM_001909.5(CTSD):c.796C>T (p.Arg266Cys) rs373621431
NM_001909.5(CTSD):c.7C>T (p.Pro3Ser) rs952058991
NM_001909.5(CTSD):c.817C>T (p.His273Tyr) rs145905196
NM_001909.5(CTSD):c.877A>C (p.Ile293Leu) rs748185051
NM_001909.5(CTSD):c.89C>T (p.Thr30Met) rs747274524
NM_001909.5(CTSD):c.8C>T (p.Pro3Leu) rs757712173
NM_001909.5(CTSD):c.924G>A (p.Val308=) rs1554962286
NM_001909.5(CTSD):c.928G>A (p.Glu310Lys) rs373699222
NM_001909.5(CTSD):c.956C>T (p.Pro319Leu) rs373170074
NM_001909.5(CTSD):c.982C>G (p.Pro328Ala) rs796052397

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