ClinVar Miner

List of variants in gene MLC1 reported as likely pathogenic by Invitae

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Total variants: 17
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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.321+1G>A rs765879182 0.00001
NM_015166.4(MLC1):c.525+1G>A rs769135961 0.00001
NC_000022.10:g.(?_50512635)_(50512771_?)del
NC_000022.10:g.(?_50521503)_(50521612_?)del
NM_015166.4(MLC1):c.275C>T (p.Pro92Leu) rs2146908500
NM_015166.4(MLC1):c.321+2T>C
NM_015166.4(MLC1):c.321+2T>G
NM_015166.4(MLC1):c.322-1G>T
NM_015166.4(MLC1):c.597+1G>A
NM_015166.4(MLC1):c.597+2T>A rs1425964299
NM_015166.4(MLC1):c.597_597+1del
NM_015166.4(MLC1):c.635G>A (p.Gly212Glu)
NM_015166.4(MLC1):c.714+2T>C
NM_015166.4(MLC1):c.772-2del
NM_015166.4(MLC1):c.823G>A (p.Ala275Thr) rs2061767463
NM_015166.4(MLC1):c.959C>A (p.Thr320Lys) rs281875313

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