ClinVar Miner

List of variants in gene SPATA5 reported as benign for auditory system disease

Included ClinVar conditions (549):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 14
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HGVS dbSNP
NM_145207.3(SPATA5):c.1046A>G (p.Lys349Arg) rs146372781
NM_145207.3(SPATA5):c.1131G>A (p.Glu377=) rs139089747
NM_145207.3(SPATA5):c.1527C>T (p.Leu509=) rs6534369
NM_145207.3(SPATA5):c.1616G>T (p.Arg539Met) rs74991481
NM_145207.3(SPATA5):c.1785G>T (p.Val595=) rs62324113
NM_145207.3(SPATA5):c.1870-4dup
NM_145207.3(SPATA5):c.1918G>C (p.Glu640Gln) rs35343500
NM_145207.3(SPATA5):c.2079+6G>A rs1472949
NM_145207.3(SPATA5):c.2214-16G>A
NM_145207.3(SPATA5):c.2485G>T (p.Asp829Tyr) rs35206443
NM_145207.3(SPATA5):c.505+10del
NM_145207.3(SPATA5):c.767T>C (p.Ile256Thr) rs55643281
NM_145207.3(SPATA5):c.807G>T (p.Leu269=) rs17006342
NM_145207.3(SPATA5):c.80G>C (p.Cys27Ser) rs35430470

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