List of variants reported as pathogenic for not provided by HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology

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: 17

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_001282225.2(ADA2):c.336C>G (p.His112Gln)	rs587777241	0.00002
NM_002478.5(MYOD1):c.188C>A (p.Ser63Ter)	rs147517396	0.00001
NM_017934.7(PHIP):c.3706C>T (p.Arg1236Ter)	rs1554196416	0.00001
GRCh37/hg19 15q11.2-13.1(chr15:23707435-28726651)x1
GRCh37/hg19 16p11.2(chr16:29443322-30320321)x3
GRCh37/hg19 9q34.3(chr9:139356644-139427066)x1
GRCh37/hg19 Xp11.21-q28(chrX:56469080-155233731)x3
GRCh37/hg19 Xp22.33-11.21(chrX:168546-56457794)x1
NM_001282225.2(ADA2):c.1082-1113del	rs1568968051
NM_001378418.1(TCF20):c.5385_5386del (p.Cys1795fs)	rs869312678
NM_001386135.1(AFF3):c.697G>A (p.Ala233Thr)	rs1131692272
NM_005402.4(RALA):c.73G>A (p.Val25Met)	rs1554297905
NM_015355.4(SUZ12):c.348_351del (p.Tyr117fs)	rs1598143986
NM_017780.4(CHD7):c.7803C>G (p.Tyr2601Ter)	rs1563669432
NM_020338.4(ZMIZ1):c.2758dup (p.Gln920fs)	rs777843533
NM_138615.3(DHX30):c.2353C>T (p.Arg785Cys)	rs1085307451
NM_152641.4(ARID2):c.1708del (p.Cys570fs)	rs879255529

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.