ClinVar Miner

List of variants in gene CTSD reported by Ambry Genetics

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Gene type:
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Total variants: 29
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HGVS dbSNP
NM_001909.5(CTSD):c.100C>T (p.Arg34Trp) rs779278368
NM_001909.5(CTSD):c.1036G>C (p.Gly346Arg) rs1565018716
NM_001909.5(CTSD):c.1170C>G (p.Ile390Met) rs370985523
NM_001909.5(CTSD):c.1215C>A (p.Gly405=) rs138733377
NM_001909.5(CTSD):c.1230C>T (p.Ala410=) rs772742148
NM_001909.5(CTSD):c.1236C>G (p.Leu412=) rs1565018392
NM_001909.5(CTSD):c.153C>T (p.Pro51=) rs560041488
NM_001909.5(CTSD):c.154G>A (p.Val52Ile) rs143517230
NM_001909.5(CTSD):c.173C>T (p.Ala58Val) rs17571
NM_001909.5(CTSD):c.180A>G (p.Pro60=) rs749805002
NM_001909.5(CTSD):c.189C>T (p.Thr63=) rs114051835
NM_001909.5(CTSD):c.231C>T (p.Ala77=) rs2230067
NM_001909.5(CTSD):c.240C>T (p.Tyr80=) rs147641822
NM_001909.5(CTSD):c.37C>T (p.Leu13=) rs763474887
NM_001909.5(CTSD):c.410C>T (p.Ser137Leu) rs777645484
NM_001909.5(CTSD):c.431C>G (p.Ser144Trp) rs754147413
NM_001909.5(CTSD):c.465T>C (p.Thr155=) rs11555039
NM_001909.5(CTSD):c.471G>A (p.Ser157=) rs760318745
NM_001909.5(CTSD):c.505C>G (p.Leu169Val) rs768487717
NM_001909.5(CTSD):c.52G>C (p.Ala18Pro) rs796052403
NM_001909.5(CTSD):c.633G>C (p.Val211=) rs1565021103
NM_001909.5(CTSD):c.828-5C>T rs762444592
NM_001909.5(CTSD):c.844G>A (p.Gly282Arg) rs147278302
NM_001909.5(CTSD):c.846G>A (p.Gly282=) rs112021026
NM_001909.5(CTSD):c.90G>A (p.Thr30=) rs368529527
NM_001909.5(CTSD):c.912G>A (p.Pro304=) rs140238987
NM_001909.5(CTSD):c.926G>A (p.Arg309His) rs374540411
NM_001909.5(CTSD):c.951C>T (p.Ala317=) rs78306946
NM_001909.5(CTSD):c.977T>C (p.Met326Thr) rs1565018786

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