ClinVar Miner

List of variants in gene MLC1 reported by OMIM

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Total variants: 11
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HGVS dbSNP gnomAD frequency
NM_015166.4(MLC1):c.274C>T (p.Pro92Ser) rs121908345 0.00006
NM_015166.4(MLC1):c.449_455del (p.Leu150fs) rs1057517090 0.00003
NM_015166.4(MLC1):c.895-2A>G rs1183818307 0.00003
NM_015166.4(MLC1):c.278C>T (p.Ser93Leu) rs80358245 0.00001
NM_015166.4(MLC1):c.135dup (p.Cys46fs) rs80358241
NM_015166.4(MLC1):c.176G>A (p.Gly59Glu) rs80358242
NM_015166.4(MLC1):c.337_353delinsG (p.Ile113fs) rs2062079566
NM_015166.4(MLC1):c.422A>G (p.Asn141Ser) rs121908344
NM_015166.4(MLC1):c.423C>A (p.Asn141Lys) rs121908343
NM_015166.4(MLC1):c.594_597del (p.Ser197_Tyr198insTer) rs267607236
NM_015166.4(MLC1):c.839C>T (p.Ser280Leu) rs121908341

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