ClinVar Miner

List of variants in gene SERPINH1 reported as uncertain significance by Eurofins NTD LLC (GA)

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Total variants: 10
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HGVS dbSNP gnomAD frequency
NM_001235.5(SERPINH1):c.580C>A (p.Arg194Ser) rs141721173 0.00100
NM_001235.5(SERPINH1):c.92G>C (p.Gly31Ala) rs140588417 0.00089
NM_001235.5(SERPINH1):c.579G>C (p.Glu193Asp) rs559687602 0.00025
NM_001235.5(SERPINH1):c.*4C>G rs550152153 0.00006
NM_001235.5(SERPINH1):c.1051G>A (p.Val351Met) rs368336245 0.00004
NM_001235.5(SERPINH1):c.765C>T (p.Ile255=) rs369937589 0.00001
NM_001235.5(SERPINH1):c.579_580delinsCA (p.Glu193_Arg194delinsAspSer) rs797044674
NM_001235.5(SERPINH1):c.716G>T (p.Arg239Leu) rs750157727
NM_001235.5(SERPINH1):c.829C>A (p.Pro277Thr) rs765044030
NM_001235.5(SERPINH1):c.961del (p.Leu321fs) rs772433295

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