ClinVar Miner

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

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Gene type:
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Total variants: 16
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HGVS dbSNP gnomAD frequency
NM_170784.3(MKKS):c.117C>T (p.Pro39=) rs16991547 0.18435
NM_170784.3(MKKS):c.1549C>T (p.Arg517Cys) rs1547 0.14159
NM_170784.3(MKKS):c.1595G>T (p.Gly532Val) rs1545 0.14147
NM_170784.3(MKKS):c.534C>T (p.Ile178=) rs17852625 0.14082
NM_170784.3(MKKS):c.985+16T>G rs6133917 0.14080
NM_170784.3(MKKS):c.724G>T (p.Ala242Ser) rs74315394 0.00508
NM_170784.3(MKKS):c.1015A>G (p.Ile339Val) rs137853909 0.00359
NM_170784.3(MKKS):c.67A>G (p.Arg23Gly) rs147545395 0.00068
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.110A>G (p.Tyr37Cys) rs74315396 0.00011
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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