ClinVar Miner

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

Included ClinVar conditions (1346):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 19
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HGVS dbSNP gnomAD frequency
NM_000308.4(CTSA):c.693-33A>G rs4810476 0.65662
NM_000308.4(CTSA):c.1088+10C>T rs4608591 0.65654
NM_000308.4(CTSA):c.948+7G>A rs2075961 0.65493
NM_000308.4(CTSA):c.1359+35G>A rs7270170 0.34309
NM_000308.4(CTSA):c.219C>G (p.Pro73=) rs742035 0.05580
NM_000308.4(CTSA):c.1353G>A (p.Thr451=) rs25649 0.01568
NM_000308.4(CTSA):c.444+14C>T rs6032580 0.01474
NM_000308.4(CTSA):c.1287G>A (p.Lys429=) rs41282776 0.00321
NM_000308.4(CTSA):c.880G>A (p.Asp294Asn) rs142892564 0.00309
NM_000308.4(CTSA):c.105C>T (p.Ile35=) rs150140984 0.00238
NM_000308.4(CTSA):c.468C>T (p.Ala156=) rs190565374 0.00012
NM_000308.4(CTSA):c.195-7dup rs780400265
NM_000308.4(CTSA):c.33GCT[6] (p.Leu18_Leu19del) rs72555383
NM_000308.4(CTSA):c.33GCT[7] (p.Leu19del) rs72555383
NM_000308.4(CTSA):c.33GCT[9] (p.Leu19dup) rs72555383
NM_000308.4(CTSA):c.693-11_693-9del rs560285370
NM_000308.4(CTSA):c.846T>C (p.Ala282=)
NM_000308.4(CTSA):c.870-15del rs3215446
NM_000308.4(CTSA):c.948+13G>T rs199925152

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