List of variants reported as likely pathogenic by Laboratorio de Genética Hospitales Universitarios Virgen de las Nieves y Clínico San Cecilio (Granada, Spain), Hospitales Universitarios Virgen de las Nieves y Clínico San Cecilio (Granada, Spain)

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: 16

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_000092.5(COL4A4):c.735+2T>C	rs2060993180	0.00001
NM_000038.6(APC):c.2684C>G (p.Ser895Ter)	rs2149875189
NM_000051.4(ATM):c.9007_9034del (p.Asn3003fs)	rs2137906600
NM_000085.5(CLCNKB):c.1026del (p.Ser343fs)
NM_000089.4(COL1A2):c.3583T>C (p.Cys1195Arg)	rs2115962248
NM_000091.5(COL4A3):c.2330G>A (p.Gly777Asp)	rs2106151987
NM_000092.5(COL4A4):c.941G>A (p.Gly314Asp)	rs1005389790
NM_000181.4(GUSB):c.107G>T (p.Arg36Leu)	rs1264172545
NM_001040616.3(LINS1):c.1727_1736del (p.Arg576fs)	rs2141261531
NM_001081.4(CUBN):c.2792-1G>T	rs2131845016
NM_001110556.2(FLNA):c.3544C>T (p.Gln1182Ter)
NM_001142864.4(PIEZO1):c.5290G>T (p.Glu1764Ter)	rs749976222
NM_003361.4(UMOD):c.947A>C (p.Gln316Pro)	rs1555487318
NM_003722.5(TP63):c.563_571del (p.Lys188_Ala190del)	rs2108638585
NM_017951.5(SMPD4):c.546_547del (p.Ala183fs)	rs1169024524
NM_020184.4(CNNM4):c.731G>T (p.Cys244Phe)	rs1300890772

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.