List of variants in gene MLC1 reported as likely pathogenic by Baylor Genetics

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 30

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HGVS	dbSNP	gnomAD frequency
NM_015166.4(MLC1):c.321+1G>A	rs765879182	0.00001
NM_015166.4(MLC1):c.321+2T>G	rs762436724	0.00001
NM_015166.4(MLC1):c.754dup (p.Cys252fs)	rs757250956	0.00001
NM_015166.4(MLC1):c.881C>T (p.Pro294Leu)	rs1050220787	0.00001
NM_015166.4(MLC1):c.973C>T (p.Gln325Ter)	rs1057516465	0.00001
NM_015166.4(MLC1):c.1059+1G>T	rs1555963392
NM_015166.4(MLC1):c.1060-2A>G	rs2518434727
NM_015166.4(MLC1):c.177+1del	rs2518369951
NM_015166.4(MLC1):c.321+2T>C	rs762436724
NM_015166.4(MLC1):c.322-1G>T	rs2518334579
NM_015166.4(MLC1):c.340_341del (p.Leu114fs)	rs2518334330
NM_015166.4(MLC1):c.346_349del (p.Val116fs)	rs2518334179
NM_015166.4(MLC1):c.423+1G>T	rs752428321
NM_015166.4(MLC1):c.470C>A (p.Ala157Glu)	rs1219458189
NM_015166.4(MLC1):c.521_524del (p.Lys174fs)	rs2518317021
NM_015166.4(MLC1):c.525+2T>C	rs2518316990
NM_015166.4(MLC1):c.526-2A>G	rs2518313444
NM_015166.4(MLC1):c.597+2T>A	rs1425964299
NM_015166.4(MLC1):c.634G>C (p.Gly212Arg)	rs281875317
NM_015166.4(MLC1):c.639dup (p.Ile214fs)	rs1449444164
NM_015166.4(MLC1):c.67C>T (p.Gln23Ter)	rs1057517228
NM_015166.4(MLC1):c.752_753del (p.Glu251fs)	rs2518502222
NM_015166.4(MLC1):c.759del (p.Ser254fs)	rs981411860
NM_015166.4(MLC1):c.791dup (p.Ser265fs)	rs2518488607
NM_015166.4(MLC1):c.803C>G (p.Thr268Arg)	rs780903222
NM_015166.4(MLC1):c.894+1G>A	rs1216099725
NM_015166.4(MLC1):c.93del (p.Asp31fs)	rs2518370885
NM_015166.4(MLC1):c.943C>T (p.Gln315Ter)	rs1569242061
NM_015166.4(MLC1):c.949_952del (p.Gly317fs)	rs2518460852
NM_015166.4(MLC1):c.959C>A (p.Thr320Lys)	rs281875313

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