List of variants in gene MLC1 reported as likely pathogenic for not provided

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Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 21

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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_015166.3(MLC1):c.-195T>C
NM_015166.4(MLC1):c.268-2A>G
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.470C>A (p.Ala157Glu)	rs1219458189
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.943C>T (p.Gln315Ter)	rs1569242061
NM_015166.4(MLC1):c.959C>A (p.Thr320Lys)	rs281875313

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