ClinVar Miner

List of variants in gene CTSD reported by EGL Genetic Diagnostics, Eurofins Clinical Diagnostics

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Gene type:
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Total variants: 19
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HGVS dbSNP
NM_001909.5(CTSD):c.-12_-10GCC[5] (p.Met1_Gln2insAla) rs886043526
NM_001909.5(CTSD):c.1009G>A (p.Ala337Thr) rs147800688
NM_001909.5(CTSD):c.111G>A (p.Ser37=) rs535140505
NM_001909.5(CTSD):c.1159G>A (p.Asp387Asn) rs764522039
NM_001909.5(CTSD):c.1162G>A (p.Val388Ile) rs202073338
NM_001909.5(CTSD):c.1185T>G (p.Thr395=) rs1565018468
NM_001909.5(CTSD):c.173C>T (p.Ala58Val) rs17571
NM_001909.5(CTSD):c.267C>G (p.Pro89=) rs139154882
NM_001909.5(CTSD):c.346G>A (p.Ala116Thr) rs367743333
NM_001909.5(CTSD):c.411G>A (p.Ser137=) rs372999684
NM_001909.5(CTSD):c.63C>T (p.Leu21=) rs1021613206
NM_001909.5(CTSD):c.704+7G>A rs748547852
NM_001909.5(CTSD):c.75G>A (p.Pro25=) rs140563067
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.8C>T (p.Pro3Leu) rs757712173
NM_001909.5(CTSD):c.912G>A (p.Pro304=) rs140238987
NM_001909.5(CTSD):c.972+10G>A rs531682785
NM_001909.5(CTSD):c.972+9C>T rs746243061

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