List of variants in gene MMAA reported by Counsyl

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
		ClinVar version:

Total variants: 31

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HGVS	dbSNP	gnomAD frequency
NM_172250.3(MMAA):c.387C>A (p.Tyr129Ter)	rs796051992	0.00003
NM_172250.3(MMAA):c.1075C>T (p.Arg359Ter)	rs999844958	0.00002
NM_172250.3(MMAA):c.266T>C (p.Leu89Pro)	rs864309726	0.00002
NM_172250.3(MMAA):c.124C>G (p.Gln42Glu)	rs758345818	0.00001
NM_172250.3(MMAA):c.283C>T (p.Gln95Ter)	rs104893846	0.00001
NM_172250.3(MMAA):c.586C>T (p.Arg196Ter)	rs1029096863	0.00001
NM_172250.3(MMAA):c.64C>T (p.Arg22Ter)	rs765799472	0.00001
NM_172250.3(MMAA):c.733+1G>A	rs779939886	0.00001
NM_172250.3(MMAA):c.833G>A (p.Gly278Asp)	rs761964238	0.00001
NM_172250.3(MMAA):c.1060_1065del (p.Glu354_Leu355del)	rs1553959122
NM_172250.3(MMAA):c.1075C>G (p.Arg359Gly)	rs999844958
NM_172250.3(MMAA):c.1114del (p.Gln372fs)	rs765726949
NM_172250.3(MMAA):c.124C>T (p.Gln42Ter)	rs758345818
NM_172250.3(MMAA):c.128C>T (p.Pro43Leu)	rs886059088
NM_172250.3(MMAA):c.15_16del (p.Pro6fs)	rs1553957862
NM_172250.3(MMAA):c.161G>A (p.Trp54Ter)	rs864309725
NM_172250.3(MMAA):c.1A>G (p.Met1Val)	rs1553957856
NM_172250.3(MMAA):c.206del (p.Thr69fs)	rs1553957901
NM_172250.3(MMAA):c.411_414del (p.Asn137fs)	rs1553957931
NM_172250.3(MMAA):c.439+1G>A	rs1553957938
NM_172250.3(MMAA):c.439+4_439+7del	rs1553957939
NM_172250.3(MMAA):c.450dup (p.Pro151fs)	rs754973022
NM_172250.3(MMAA):c.508_509insAGG (p.Arg170delinsLysGly)	rs1553958153
NM_172250.3(MMAA):c.551dup (p.Cys184fs)	rs1553958159
NM_172250.3(MMAA):c.562+1G>T	rs869320656
NM_172250.3(MMAA):c.594dup (p.Glu199Ter)	rs1553958395
NM_172250.3(MMAA):c.650T>A (p.Leu217Ter)	rs140356252
NM_172250.3(MMAA):c.72C>A (p.Tyr24Ter)	rs1553957883
NM_172250.3(MMAA):c.812_813dup (p.Leu272fs)	rs1553958720
NM_172250.3(MMAA):c.952C>T (p.Gln318Ter)	rs751717131
NM_172250.3(MMAA):c.970-2A>T	rs1553959113

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