ClinVar Miner

List of variants in gene CTSA reported as pathogenic for bone disorder

Included ClinVar conditions (1350):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 44
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HGVS dbSNP gnomAD frequency
NM_000308.4(CTSA):c.745T>A (p.Tyr249Asn) rs137854544 0.00005
NM_000308.4(CTSA):c.1-2A>G rs979557944 0.00004
NM_000308.4(CTSA):c.497del (p.Glu166fs) rs1159382283 0.00003
NM_000308.4(CTSA):c.991del (p.Cys331fs) rs745743780 0.00002
NM_000308.4(CTSA):c.1123C>T (p.Arg375Ter) rs1189568492 0.00001
NM_000308.4(CTSA):c.146A>G (p.Gln49Arg) rs137854541 0.00001
NM_000308.4(CTSA):c.394G>A (p.Val132Met) rs137854545 0.00001
NM_000308.4(CTSA):c.699G>A (p.Trp233Ter) rs766114836 0.00001
NM_000308.4(CTSA):c.1005del (p.Ala336fs)
NM_000308.4(CTSA):c.1019dup (p.Tyr340Ter)
NM_000308.4(CTSA):c.1035C>A (p.Tyr345Ter)
NM_000308.4(CTSA):c.1063C>T (p.Gln355Ter)
NM_000308.4(CTSA):c.1104dup (p.Gln369fs) rs2083116648
NM_000308.4(CTSA):c.1105C>T (p.Gln369Ter)
NM_000308.4(CTSA):c.1106del (p.Gln369fs)
NM_000308.4(CTSA):c.112del (p.Leu38fs) rs1241378191
NM_000308.4(CTSA):c.1184A>G (p.Tyr395Cys) rs137854543
NM_000308.4(CTSA):c.1215_1216insTTTTTTTTTTTTTTTTTTTTNNNNNNNNNNGAGGGGCTCCTCACTTCCCAGAAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCAGACGGGGCGGCTGGCATGGCCTGCAATTTC (p.Phe405_Met406insPhePhePhePhePhePheXaaXaaXaaXaaGluGlyLeuLeuThrSerGlnLysGlyArgProGlyArgGlyAlaProHisLeuProAspGlyAlaAlaGlyMetAlaCysAsnPhe)
NM_000308.4(CTSA):c.1294del (p.Asp432fs)
NM_000308.4(CTSA):c.130C>T (p.Gln44Ter) rs1311180360
NM_000308.4(CTSA):c.143del (p.Arg48fs)
NM_000308.4(CTSA):c.15_19dup (p.Pro7fs)
NM_000308.4(CTSA):c.193T>C (p.Trp65Arg) rs28934603
NM_000308.4(CTSA):c.230del (p.Pro77fs) rs587779402
NM_000308.4(CTSA):c.242G>A (p.Trp81Ter)
NM_000308.4(CTSA):c.253_254dup (p.Pro86fs)
NM_000308.4(CTSA):c.269C>T (p.Ser90Leu) rs137854542
NM_000308.4(CTSA):c.275_278del (p.Asp92fs)
NM_000308.4(CTSA):c.31_34del (p.Leu11fs)
NM_000308.4(CTSA):c.350G>A (p.Trp117Ter)
NM_000308.4(CTSA):c.376del (p.Leu126fs)
NM_000308.4(CTSA):c.463G>T (p.Glu155Ter)
NM_000308.4(CTSA):c.517_518del (p.Phe173fs) rs769812697
NM_000308.4(CTSA):c.518del (p.Phe173fs)
NM_000308.4(CTSA):c.580G>A (p.Asp194Asn) rs2145816069
NM_000308.4(CTSA):c.595del (p.Leu199fs) rs786205670
NM_000308.4(CTSA):c.625_626del (p.Ser209fs)
NM_000308.4(CTSA):c.692+3A>G rs786200859
NM_000308.4(CTSA):c.768C>A (p.Cys256Ter) rs767712946
NM_000308.4(CTSA):c.833_834del (p.Tyr278fs) rs875989777
NM_000308.4(CTSA):c.843T>A (p.Cys281Ter)
NM_000308.4(CTSA):c.873T>G (p.Tyr291Ter)
NM_000308.4(CTSA):c.946C>T (p.Gln316Ter) rs200565348
NM_000308.4(CTSA):c.990dup (p.Cys331fs) rs758642867

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