List of variants in gene MLC1 reported as uncertain significance by Counsyl

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: 15

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HGVS	dbSNP	gnomAD frequency
NM_015166.4(MLC1):c.983G>A (p.Arg328His)	rs145376667	0.00022
NM_015166.4(MLC1):c.65G>A (p.Arg22Gln)	rs184241759	0.00011
NM_015166.4(MLC1):c.95C>T (p.Ala32Val)	rs200382943	0.00010
NM_015166.4(MLC1):c.715-5C>A	rs751850836	0.00006
NM_015166.4(MLC1):c.821C>T (p.Thr274Ile)	rs1227088497	0.00001
NM_015166.4(MLC1):c.-59-1G>C	rs1555968825
NM_015166.4(MLC1):c.1065del (p.Arg356fs)	rs1555962643
NM_015166.4(MLC1):c.1076del (p.Leu359fs)	rs1372842345
NM_015166.4(MLC1):c.1132T>A (p.Ter378Arg)	rs1555962581
NM_015166.4(MLC1):c.74C>G (p.Pro25Arg)	rs886057625
NM_015166.4(MLC1):c.771+2dup	rs1555965439
NM_015166.4(MLC1):c.839C>T (p.Ser280Leu)	rs121908341
NM_015166.4(MLC1):c.909GCT[10] (p.Leu308_Leu310dup)	rs761096481
NM_015166.4(MLC1):c.909GCT[8] (p.Leu310dup)	rs761096481
NM_015166.4(MLC1):c.923T>A (p.Leu308Gln)	rs540358165

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