List of variants reported as likely pathogenic by NxGen MDx

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: 29

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_000478.6(ALPL):c.575T>C (p.Met192Thr)	rs765011829	0.00007
NM_000441.2(SLC26A4):c.165-1G>A	rs759792660	0.00005
NM_000187.4(HGD):c.367G>A (p.Gly123Arg)	rs564979861	0.00002
NM_000051.4(ATM):c.8584+2T>C	rs730881326	0.00001
NM_000152.5(GAA):c.2783A>G (p.Tyr928Cys)	rs1403885484	0.00001
NM_000187.4(HGD):c.343G>C (p.Gly115Arg)	rs755734596	0.00001
NM_000203.5(IDUA):c.1883G>C (p.Arg628Pro)	rs200448421	0.00001
NM_000228.3(LAMB3):c.1756C>T (p.Gln586Ter)	rs749842554	0.00001
NM_000360.4(TH):c.646G>A (p.Gly216Ser)	rs762304556	0.00001
NM_001206744.2(TPO):c.391T>C (p.Ser131Pro)	rs201800220	0.00001
NM_015166.4(MLC1):c.249G>T (p.Leu83Phe)	rs1289520784	0.00001
NM_000051.4(ATM):c.8368del (p.Arg2790fs)	rs2136948975
NM_000071.3(CBS):c.1341del (p.Val448fs)	rs2146340713
NM_000152.5(GAA):c.1847dup (p.Asp616fs)	rs1475559733
NM_000157.4(GBA1):c.1255G>A (p.Asp419Asn)	rs1671712475
NM_000157.4(GBA1):c.914C>T (p.Pro305Leu)	rs79215220
NM_000159.4(GCDH):c.1220T>C (p.Leu407Pro)	rs1555751379
NM_000187.4(HGD):c.566G>T (p.Ser189Ile)	rs2107510544
NM_000203.5(IDUA):c.398_403del (p.Met133_Gly134del)	rs774605197
NM_000277.3(PAH):c.830_831insC (p.Thr278fs)	rs2136646052
NM_000352.6(ABCC8):c.11C>T (p.Ala4Val)	rs2133738359
NM_000352.6(ABCC8):c.2169_2171del (p.Leu724del)	rs760520781
NM_000382.3(ALDH3A2):c.126del (p.Thr43fs)
NM_000492.4(CFTR):c.1652del (p.Gly551fs)	rs397508252
NM_000492.4(CFTR):c.3068T>G (p.Ile1023Arg)	rs756219310
NM_000492.4(CFTR):c.327T>G (p.Tyr109Ter)	rs397508528
NM_000525.4(KCNJ11):c.617G>A (p.Arg206His)	rs1554901747
NM_000528.4(MAN2B1):c.2515C>T (p.Arg839Ter)	rs1291147781
NM_000558.5(HBA1):c.2del (p.Met1fs)	rs1298047912

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.