List of variants in gene EMC1 reported as uncertain significance by Institute of Human Genetics, Univ. Regensburg, Univ. Regensburg

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: 12

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HGVS	dbSNP	gnomAD frequency
NM_015047.3(EMC1):c.61G>A (p.Ala21Thr)	rs11558182	0.00007
NM_015047.3(EMC1):c.1846C>T (p.Pro616Ser)	rs750940846	0.00004
NM_015047.3(EMC1):c.2264C>T (p.Thr755Ile)	rs200674851	0.00004
NM_015047.3(EMC1):c.602A>G (p.Lys201Arg)	rs201268650	0.00003
NM_015047.3(EMC1):c.1150C>T (p.Arg384Trp)	rs759816328	0.00001
NM_015047.3(EMC1):c.1327T>C (p.Trp443Arg)	rs371025215	0.00001
NM_015047.3(EMC1):c.314G>A (p.Arg105Gln)	rs1345784060	0.00001
NM_015047.3(EMC1):c.336_338del (p.Asn113del)	rs747568977	0.00001
NM_015047.3(EMC1):c.862C>T (p.Arg288Trp)	rs751352541	0.00001
NM_015047.3(EMC1):c.1783G>A (p.Glu595Lys)
NM_015047.3(EMC1):c.1990G>A (p.Glu664Lys)	rs2093516350
NM_015047.3(EMC1):c.2576G>A (p.Arg859Gln)

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