ClinVar Miner

List of variants in gene MLC1 studied for not specified

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Total variants: 24
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HGVS dbSNP gnomAD frequency
NM_015166.4(MLC1):c.321+50T>C rs79301 0.94928
NM_015166.4(MLC1):c.714+28G>A rs2038048 0.37853
NM_015166.4(MLC1):c.*48A>G rs137919 0.23521
NM_015166.4(MLC1):c.*45A>G rs2072873 0.14823
NM_015166.4(MLC1):c.525+22G>A rs2072874 0.14143
NM_015166.4(MLC1):c.772-35C>T rs11568179 0.11738
NM_015166.4(MLC1):c.895-9C>T rs11568185 0.11704
NM_015166.4(MLC1):c.895-23C>T rs11568184 0.11703
NM_015166.4(MLC1):c.597A>G (p.Ser199=) rs6010164 0.11147
NM_015166.4(MLC1):c.594C>T (p.Tyr198=) rs6010165 0.11145
NM_015166.4(MLC1):c.978C>T (p.Cys326=) rs11568186 0.10918
NM_015166.4(MLC1):c.996T>C (p.Ser332=) rs11568187 0.10904
NM_015166.4(MLC1):c.512G>T (p.Cys171Phe) rs6010260 0.10037
NM_015166.4(MLC1):c.1031A>G (p.Asn344Ser) rs11568188 0.09405
NM_015166.4(MLC1):c.772-34G>A rs73893124 0.07123
NM_015166.4(MLC1):c.932T>A (p.Val311Glu) rs141225099 0.00622
NM_015166.4(MLC1):c.628G>A (p.Val210Ile) rs11568178 0.00110
NM_015166.4(MLC1):c.1053T>C (p.Ala351=) rs11568190 0.00056
NM_015166.4(MLC1):c.65G>A (p.Arg22Gln) rs184241759 0.00011
NM_015166.4(MLC1):c.979G>A (p.Val327Met) rs111520454 0.00001
NC_000022.10:g.(50500087_50502462)_(50524359_?)dup
NM_015166.4(MLC1):c.654C>A (p.Asn218Lys) rs41302601
NM_015166.4(MLC1):c.806C>A (p.Ser269Tyr) rs528700157
NM_015166.4(MLC1):c.909GCT[8] (p.Leu310dup) rs761096481

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