ClinVar Miner

List of variants in gene SERPINH1 reported by Genome Diagnostics Laboratory, The Hospital for Sick Children

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Total variants: 8
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HGVS dbSNP gnomAD frequency
NM_001235.5(SERPINH1):c.955-6C>A rs7105575 0.03189
NM_001235.5(SERPINH1):c.744C>T (p.Asp248=) rs61733248 0.00285
NM_001235.5(SERPINH1):c.721+9T>C rs138193444 0.00158
NM_001235.5(SERPINH1):c.188C>T (p.Ala63Val) rs576480194 0.00038
NM_001235.5(SERPINH1):c.481A>C (p.Ile161Leu) rs112083274 0.00027
NM_001235.5(SERPINH1):c.*4C>G rs550152153 0.00006
NM_001235.5(SERPINH1):c.843T>C (p.Leu281=) rs544719966 0.00001
NM_001235.5(SERPINH1):c.370C>T (p.Arg124Cys) rs1942088242

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