ClinVar Miner

List of variants in gene MLC1 reported as likely benign by Breakthrough Genomics, Breakthrough Genomics

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Gene type:
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Total variants: 7
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HGVS dbSNP gnomAD frequency
NM_015166.4(MLC1):c.894+128C>T rs11568181 0.00685
NM_015166.4(MLC1):c.279G>A (p.Ser93=) rs11568172 0.00422
NM_015166.4(MLC1):c.1053T>C (p.Ala351=) rs11568190 0.00056
NM_015166.4(MLC1):c.1059+13C>T rs775704952 0.00023
NM_015166.4(MLC1):c.*431C>T rs114598884
NM_015166.4(MLC1):c.1059+20A>T rs746438468
NM_015166.4(MLC1):c.654C>A (p.Asn218Lys) rs41302601

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