ClinVar Miner

List of variants in gene TIMM44 reported by Mayo Clinic Laboratories, Mayo Clinic

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Total variants: 14
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HGVS dbSNP gnomAD frequency
NM_006351.4(TIMM44):c.342G>A (p.Thr114=) rs11542189 0.09668
NM_006351.4(TIMM44):c.1128+3A>G rs34425383 0.08169
NM_006351.4(TIMM44):c.1305C>T (p.Tyr435=) rs11542188 0.07888
NM_006351.4(TIMM44):c.45+8G>A rs12985279 0.06040
NM_006351.4(TIMM44):c.863-8C>T rs55991628 0.06008
NM_006351.4(TIMM44):c.1114A>G (p.Ile372Val) rs11542187 0.03212
NM_006351.4(TIMM44):c.753C>G (p.Asn251Lys) rs118048213 0.02546
NM_006351.4(TIMM44):c.396C>T (p.Ser132=) rs55715900 0.01798
NM_006351.4(TIMM44):c.924G>A (p.Pro308=) rs75137889 0.00933
NM_006351.4(TIMM44):c.184G>A (p.Gly62Ser) rs144317041 0.00890
NM_006351.4(TIMM44):c.203A>G (p.Lys68Arg) rs117812409 0.00707
NM_006351.4(TIMM44):c.69A>G (p.Gln23=) rs35992331 0.00569
NM_006351.4(TIMM44):c.138A>G (p.Pro46=) rs145509783 0.00327
NM_006351.4(TIMM44):c.544-9C>T rs185667226

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