List of variants in gene MMAA reported as uncertain significance by Ambry 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: 28

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HGVS	dbSNP	gnomAD frequency
NM_172250.3(MMAA):c.393A>T (p.Arg131Ser)	rs371714495	0.00031
NM_172250.3(MMAA):c.440-6C>T	rs374784209	0.00009
NM_172250.3(MMAA):c.940C>T (p.Arg314Cys)	rs374795215	0.00009
NM_172250.3(MMAA):c.1078C>T (p.Arg360Trp)	rs6812252	0.00008
NM_172250.3(MMAA):c.977G>A (p.Arg326His)	rs201547892	0.00007
NM_172250.3(MMAA):c.92G>A (p.Ser31Asn)	rs142126209	0.00006
NM_172250.3(MMAA):c.989G>A (p.Arg330Gln)	rs140031911	0.00005
NM_172250.3(MMAA):c.347A>G (p.Lys116Arg)	rs772082690	0.00002
NM_172250.3(MMAA):c.760G>A (p.Ala254Thr)	rs769722136	0.00001
NM_172250.3(MMAA):c.1004T>G (p.Ile335Ser)
NM_172250.3(MMAA):c.1014G>A (p.Met338Ile)
NM_172250.3(MMAA):c.1120A>C (p.Ser374Arg)
NM_172250.3(MMAA):c.1133A>T (p.His378Leu)
NM_172250.3(MMAA):c.1142C>T (p.Thr381Ile)	rs1057520160
NM_172250.3(MMAA):c.1210G>C (p.Gly404Arg)
NM_172250.3(MMAA):c.1211G>A (p.Gly404Glu)
NM_172250.3(MMAA):c.247C>A (p.Gln83Lys)
NM_172250.3(MMAA):c.269A>T (p.Tyr90Phe)	rs148404005
NM_172250.3(MMAA):c.307G>A (p.Glu103Lys)
NM_172250.3(MMAA):c.389A>G (p.His130Arg)
NM_172250.3(MMAA):c.524C>G (p.Ser175Cys)
NM_172250.3(MMAA):c.664A>G (p.Arg222Gly)	rs920825350
NM_172250.3(MMAA):c.75C>G (p.His25Gln)
NM_172250.3(MMAA):c.775A>C (p.Met259Leu)
NM_172250.3(MMAA):c.845T>C (p.Met282Thr)
NM_172250.3(MMAA):c.919G>A (p.Val307Met)
NM_172250.3(MMAA):c.928C>G (p.Leu310Val)	rs1728166357
NM_172250.3(MMAA):c.946C>T (p.Arg316Cys)

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