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

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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: 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.423+1G>A	rs752428321	0.00003
NM_015166.4(MLC1):c.449_455del (p.Leu150fs)	rs1057517090	0.00003
NM_015166.4(MLC1):c.136del (p.Cys46fs)	rs1057516766	0.00001
NM_015166.4(MLC1):c.177+1G>T	rs1374593138	0.00001
NM_015166.4(MLC1):c.278C>T (p.Ser93Leu)	rs80358245	0.00001
NM_015166.4(MLC1):c.353C>T (p.Thr118Met)	rs281875316	0.00001
NM_015166.4(MLC1):c.714+1G>A	rs761620701	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.324del (p.Asn110fs)	rs786204747
NM_015166.4(MLC1):c.594_597del (p.Ser197_Tyr198insTer)	rs267607236
NM_015166.4(MLC1):c.597+1G>A	rs1569248367
NM_015166.4(MLC1):c.772-1G>C	rs2518488789
NM_015166.4(MLC1):c.824C>A (p.Ala275Asp)	rs764669598
NM_015166.4(MLC1):c.849del (p.Ile283_Met284insTer)	rs2518488079
NM_015166.4(MLC1):c.908_918delinsGCA (p.Val303fs)	rs2146772952

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