ClinVar Miner

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

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Gene type:
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Total variants: 7
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HGVS dbSNP gnomAD frequency
NM_170784.3(MKKS):c.*10A>G rs144934812 0.00053
NM_170784.3(MKKS):c.59A>G (p.Glu20Gly) rs199553497 0.00020
NM_170784.3(MKKS):c.35G>A (p.Cys12Tyr) rs368277209 0.00006
NM_170784.3(MKKS):c.830T>C (p.Leu277Pro) rs74315398 0.00006
NM_170784.3(MKKS):c.1161+4G>A rs761886025 0.00003
NM_170784.3(MKKS):c.1474G>A (p.Asp492Asn) rs142327258
NM_170784.3(MKKS):c.812C>T (p.Ala271Val) rs772754363

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