List of variants in gene MLC1 reported as likely pathogenic by Fulgent Genetics, Fulgent 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: 19

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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.353C>T (p.Thr118Met)	rs281875316	0.00001
NM_015166.4(MLC1):c.525+1G>A	rs769135961	0.00001
NM_015166.4(MLC1):c.881C>T (p.Pro294Leu)	rs1050220787	0.00001
NM_015166.4(MLC1):c.1059+1G>A	rs1555963392
NM_015166.4(MLC1):c.176G>A (p.Gly59Glu)	rs80358242
NM_015166.4(MLC1):c.424-1G>A
NM_015166.4(MLC1):c.470C>A (p.Ala157Glu)	rs1219458189
NM_015166.4(MLC1):c.594_597+2delinsTTCGGC
NM_015166.4(MLC1):c.597+2T>C
NM_015166.4(MLC1):c.604G>A (p.Glu202Lys)
NM_015166.4(MLC1):c.67C>T (p.Gln23Ter)	rs1057517228
NM_015166.4(MLC1):c.736A>C (p.Ser246Arg)	rs281875315
NM_015166.4(MLC1):c.752_753del (p.Glu251fs)	rs2518502222
NM_015166.4(MLC1):c.895-2_898delinsCTTCTG
NM_015166.4(MLC1):c.909GCT[5] (p.Leu309_Leu310del)
NM_015166.4(MLC1):c.943C>T (p.Gln315Ter)	rs1569242061
NM_015166.4(MLC1):c.959C>A (p.Thr320Lys)	rs281875313

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