ClinVar Miner

List of variants in gene MLC1 reported as uncertain significance for Inborn genetic diseases

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Total variants: 25
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HGVS dbSNP gnomAD frequency
NM_015166.4(MLC1):c.983G>A (p.Arg328His) rs145376667 0.00022
NM_015166.4(MLC1):c.1008G>T (p.Gln336His) rs139336504 0.00020
NM_015166.4(MLC1):c.101C>T (p.Pro34Leu) rs138094311 0.00009
NM_015166.4(MLC1):c.949G>A (p.Gly317Ser) rs145180481 0.00009
NM_015166.4(MLC1):c.1087G>A (p.Asp363Asn) rs779971307 0.00004
NM_015166.4(MLC1):c.1111G>A (p.Val371Ile) rs200273593 0.00003
NM_015166.4(MLC1):c.502G>A (p.Glu168Lys) rs753096633 0.00003
NM_015166.4(MLC1):c.50C>T (p.Thr17Met) rs759692106 0.00003
NM_015166.4(MLC1):c.524A>G (p.Lys175Arg) rs772882799 0.00003
NM_015166.4(MLC1):c.1046G>A (p.Arg349His) rs773991414 0.00002
NM_015166.4(MLC1):c.596C>T (p.Ser199Leu) rs774184754 0.00002
NM_015166.4(MLC1):c.710T>A (p.Val237Glu) rs765967624 0.00002
NM_015166.4(MLC1):c.1009G>C (p.Gly337Arg)
NM_015166.4(MLC1):c.1012G>C (p.Ala338Pro)
NM_015166.4(MLC1):c.1076T>C (p.Leu359Pro) rs780525099
NM_015166.4(MLC1):c.289A>C (p.Ser97Arg) rs2518338068
NM_015166.4(MLC1):c.371C>T (p.Thr124Met)
NM_015166.4(MLC1):c.548A>G (p.Asn183Ser) rs758691430
NM_015166.4(MLC1):c.650T>C (p.Leu217Pro)
NM_015166.4(MLC1):c.698T>C (p.Phe233Ser) rs2518295534
NM_015166.4(MLC1):c.803C>T (p.Thr268Met) rs780903222
NM_015166.4(MLC1):c.859G>A (p.Val287Met)
NM_015166.4(MLC1):c.902A>G (p.Tyr301Cys) rs750071175
NM_015166.4(MLC1):c.917T>A (p.Leu306Gln) rs768711345
NM_015166.4(MLC1):c.952C>T (p.Leu318Phe) rs1569242042

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