List of variants reported as likely pathogenic for parathyroid gland disorder by Fulgent Genetics, Fulgent Genetics

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: 14

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_000383.4(AIRE):c.1095+2T>C	rs760280615	0.00009
NM_000383.4(AIRE):c.652+1G>T	rs199612115	0.00004
NM_004752.4(GCM2):c.187G>A (p.Gly63Ser)	rs104893960	0.00003
NM_000383.4(AIRE):c.1295_1296insA (p.Arg433fs)	rs763695515	0.00001
NM_000383.4(AIRE):c.463G>A (p.Gly155Ser)	rs193922418	0.00001
NM_000383.4(AIRE):c.83T>C (p.Leu28Pro)	rs179363878	0.00001
NM_000383.4(AIRE):c.977C>T (p.Pro326Leu)	rs179363885	0.00001
NM_000388.4(CASR):c.2405A>G (p.Asn802Ser)	rs140022350	0.00001
NM_000383.4(AIRE):c.254A>G (p.Tyr85Cys)	rs179363882
NM_000388.4(CASR):c.2449G>A (p.Val817Ile)	rs1057518933
NM_000388.4(CASR):c.2506G>T (p.Val836Leu)	rs2107650629
NM_000388.4(CASR):c.379G>A (p.Glu127Lys)	rs2074565202
NM_000388.4(CASR):c.413C>T (p.Thr138Met)	rs121909263
NM_000388.4(CASR):c.653A>G (p.Tyr218Cys)	rs2074624616

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.