ClinVar Miner

List of variants in gene MLC1 reported by Genetic Services Laboratory, University of Chicago

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Gene type:
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Total variants: 10
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HGVS dbSNP gnomAD frequency
NM_015166.4(MLC1):c.895-9C>T rs11568185 0.11704
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.1053T>C (p.Ala351=) rs11568190 0.00056
NM_015166.4(MLC1):c.525+1G>A rs769135961 0.00001
NM_015166.4(MLC1):c.639dup (p.Ile214fs) rs1449444164

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