List of variants reported as likely pathogenic for autosomal recessive disease by Pathology and Clinical Laboratory Medicine, King Fahad Medical City

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_000320.3(QDPR):c.344C>T (p.Ser115Leu)	rs1407920390	0.00001
NM_000271.5(NPC1):c.547G>A (p.Ala183Thr)	rs111256741
NM_000277.3(PAH):c.671T>C (p.Ile224Thr)	rs62507323
NM_000317.3(PTS):c.238A>G (p.Met80Val)	rs1057517810
NM_000317.3(PTS):c.2T>G (p.Met1Arg)	rs1859865221
NM_000317.3(PTS):c.342C>G (p.Ile114Met)	rs17851590
NM_002292.4(LAMB2):c.970T>C (p.Cys324Arg)	rs2045472442
NM_002485.5(NBN):c.589del (p.Tyr197fs)	rs1586088924
NM_004813.4(PEX16):c.460+5G>A	rs2134695257
NM_005529.7(HSPG2):c.11208-7G>A	rs1336552092
NM_005529.7(HSPG2):c.9970G>A (p.Gly3324Arg)	rs1294413650
NM_015702.3(MMADHC):c.702dup (p.Gly235fs)	rs1682617973
NM_024570.4(RNASEH2B):c.356A>G (p.Asp119Gly)	rs786205483
NM_025114.4(CEP290):c.4714G>A (p.Glu1572Lys)	rs1292516576
NM_025114.4(CEP290):c.5704G>T (p.Glu1902Ter)	rs267606719
NM_138694.4(PKHD1):c.9288_9290del (p.Ala3097del)	rs2150985143

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.