ClinVar Miner

List of variants in gene MRPL28 reported as uncertain significance by Ambry Genetics

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Gene type:
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Total variants: 31
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HGVS dbSNP gnomAD frequency
NM_006428.5(MRPL28):c.547C>T (p.Arg183Trp) rs369130618 0.00033
NM_006428.5(MRPL28):c.466A>C (p.Lys156Gln) rs149116854 0.00031
NM_006428.5(MRPL28):c.262G>A (p.Gly88Ser) rs368739271 0.00018
NM_006428.5(MRPL28):c.535G>A (p.Glu179Lys) rs777669067 0.00006
NM_006428.5(MRPL28):c.228G>C (p.Gln76His) rs765516864 0.00005
NM_006428.5(MRPL28):c.626A>C (p.Glu209Ala) rs749381307 0.00005
NM_006428.5(MRPL28):c.25T>A (p.Trp9Arg) rs1032263934 0.00003
NM_006428.5(MRPL28):c.502C>T (p.Arg168Trp) rs568292439 0.00003
NM_006428.5(MRPL28):c.214C>T (p.Pro72Ser) rs538492413 0.00002
NM_006428.5(MRPL28):c.323A>G (p.Gln108Arg) rs764386801 0.00001
NM_006428.5(MRPL28):c.386T>C (p.Met129Thr) rs1423613319 0.00001
NM_006428.5(MRPL28):c.488G>A (p.Arg163Gln) rs776436317 0.00001
NM_006428.5(MRPL28):c.503G>A (p.Arg168Gln) rs139346363 0.00001
NM_006428.5(MRPL28):c.112C>T (p.Pro38Ser) rs757966508
NM_006428.5(MRPL28):c.158A>C (p.Asn53Thr) rs200536779
NM_006428.5(MRPL28):c.159C>G (p.Asn53Lys) rs142841857
NM_006428.5(MRPL28):c.187G>A (p.Glu63Lys) rs775846172
NM_006428.5(MRPL28):c.209A>G (p.Tyr70Cys)
NM_006428.5(MRPL28):c.22G>C (p.Val8Leu) rs756788492
NM_006428.5(MRPL28):c.250G>C (p.Gly84Arg)
NM_006428.5(MRPL28):c.280A>C (p.Asn94His) rs2548603804
NM_006428.5(MRPL28):c.289C>G (p.Leu97Val)
NM_006428.5(MRPL28):c.331G>A (p.Glu111Lys)
NM_006428.5(MRPL28):c.406G>A (p.Asp136Asn)
NM_006428.5(MRPL28):c.493A>C (p.Met165Leu)
NM_006428.5(MRPL28):c.511C>T (p.Arg171Trp)
NM_006428.5(MRPL28):c.620C>T (p.Thr207Met)
NM_006428.5(MRPL28):c.681C>G (p.Phe227Leu) rs1214426269
NM_006428.5(MRPL28):c.687C>G (p.Ile229Met) rs138615333
NM_006428.5(MRPL28):c.761G>C (p.Ser254Thr)
NM_006428.5(MRPL28):c.77G>A (p.Gly26Asp)

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