List of variants reported as benign for 3MC syndrome by Labcorp Genetics (formerly Invitae), Labcorp

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 27

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_139125.4(MASP1):c.1374T>C (p.Pro458=)	rs710452	0.96108
NM_139125.4(MASP1):c.1851G>A (p.Leu617=)	rs850312	0.25490
NM_139125.4(MASP1):c.5+4C>T	rs72549254	0.16859
NM_139125.4(MASP1):c.1335C>T (p.Ser445=)	rs3774268	0.15106
NM_139125.4(MASP1):c.1727G>T (p.Arg576Met)	rs72549154	0.06781
NM_139125.4(MASP1):c.1386G>A (p.Pro462=)	rs35384947	0.01256
NM_139125.4(MASP1):c.1277G>A (p.Gly426Glu)	rs28945068	0.01228
NM_139125.4(MASP1):c.547+14A>G	rs72549251	0.01000
NM_139125.4(MASP1):c.417T>C (p.Asp139=)	rs72549252	0.00909
NM_139125.4(MASP1):c.1824T>C (p.Ser608=)	rs7652842	0.00839
NM_139125.4(MASP1):c.1746G>A (p.Pro582=)	rs3821805	0.00512
NM_139125.4(MASP1):c.1062G>A (p.Thr354=)	rs116763673	0.00431
NM_139125.4(MASP1):c.238-9A>G	rs72549171	0.00359
NM_139125.4(MASP1):c.1552G>A (p.Val518Ile)	rs73068950	0.00329
NM_139125.4(MASP1):c.893-14T>G	rs188032187	0.00248
NM_139125.4(MASP1):c.1521G>A (p.Thr507=)	rs139497497	0.00216
NM_139125.4(MASP1):c.64G>A (p.Val22Met)	rs77189011	0.00172
NM_139125.4(MASP1):c.863G>A (p.Arg288Gln)	rs116001173	0.00116
NM_139125.4(MASP1):c.501C>G (p.Ser167=)	rs16861801	0.00106
NM_139125.4(MASP1):c.415+13A>C	rs201075861	0.00068
NM_139125.4(MASP1):c.1091-11T>C	rs201073458	0.00063
NM_139125.4(MASP1):c.1507C>T (p.Arg503Cys)	rs201025468	0.00031
NM_139125.4(MASP1):c.1012-17T>C	rs201766436	0.00022
NM_139125.4(MASP1):c.1155C>T (p.Asn385=)	rs183144579	0.00021
NM_139125.4(MASP1):c.1467G>A (p.Ala489=)	rs149695036	0.00018
NM_139125.4(MASP1):c.510C>T (p.Phe170=)	rs553549384	0.00003
NM_139125.4(MASP1):c.753T>G (p.Val251=)	rs527250528	0.00001

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.