ClinVar Miner

List of variants in gene SAMD9L reported as likely pathogenic for cerebellar ataxia

Included ClinVar conditions (255):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 8
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HGVS dbSNP gnomAD frequency
NM_152703.5(SAMD9L):c.2957G>A (p.Arg986His) rs769611275 0.00001
NM_152703.5(SAMD9L):c.2640C>A (p.His880Gln) rs878855336
NM_152703.5(SAMD9L):c.2675T>G (p.Met892Arg)
NM_152703.5(SAMD9L):c.2905A>G (p.Thr969Ala) rs1792213890
NM_152703.5(SAMD9L):c.3353A>G (p.Tyr1118Cys) rs1562789302
NM_152703.5(SAMD9L):c.3374A>G (p.Gln1125Arg)
NM_152703.5(SAMD9L):c.3587G>C (p.Cys1196Ser) rs878855337
NM_152703.5(SAMD9L):c.[1076G>A;3353A>G]

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