ClinVar Miner

List of variants reported as uncertain significance for Sanfilippo syndrome type D

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 65
Download table as spreadsheet
HGVS dbSNP
NC_000012.12:g.(?_64747692)_(64747938_?)del
NM_002076.4(GNS):c.*1435G>A
NM_002076.4(GNS):c.*152G>A rs768957003
NM_002076.4(GNS):c.*1580A>G rs886049764
NM_002076.4(GNS):c.*1681C>G rs142676698
NM_002076.4(GNS):c.*1759A>G rs540594590
NM_002076.4(GNS):c.*1809T>C
NM_002076.4(GNS):c.*1977A>G
NM_002076.4(GNS):c.*2032T>A rs886049763
NM_002076.4(GNS):c.*2099G>A
NM_002076.4(GNS):c.*2146G>A
NM_002076.4(GNS):c.*2278A>C
NM_002076.4(GNS):c.*2301G>A
NM_002076.4(GNS):c.*2406A>G
NM_002076.4(GNS):c.*2447G>A rs567930294
NM_002076.4(GNS):c.*2489T>C
NM_002076.4(GNS):c.*2560T>G rs886049762
NM_002076.4(GNS):c.*2571T>C
NM_002076.4(GNS):c.*2612G>T
NM_002076.4(GNS):c.*2625G>A
NM_002076.4(GNS):c.*2656G>A rs577212739
NM_002076.4(GNS):c.*2699G>C rs867153534
NM_002076.4(GNS):c.*2735C>T rs143396704
NM_002076.4(GNS):c.*2740G>A rs886049761
NM_002076.4(GNS):c.*2783C>T rs573404754
NM_002076.4(GNS):c.*2843C>T rs577545481
NM_002076.4(GNS):c.*2844G>A
NM_002076.4(GNS):c.*334C>T rs886049771
NM_002076.4(GNS):c.*357T>C rs554471490
NM_002076.4(GNS):c.*37G>T rs142001509
NM_002076.4(GNS):c.*425G>A rs141736156
NM_002076.4(GNS):c.*574G>A rs886049770
NM_002076.4(GNS):c.*676A>G rs886049769
NM_002076.4(GNS):c.*699G>C
NM_002076.4(GNS):c.*71T>C
NM_002076.4(GNS):c.*734A>G rs886049768
NM_002076.4(GNS):c.*764G>A rs886049767
NM_002076.4(GNS):c.*826G>A rs886049766
NM_002076.4(GNS):c.*846C>T rs886049765
NM_002076.4(GNS):c.*86A>T
NM_002076.4(GNS):c.*985A>G rs531715804
NM_002076.4(GNS):c.-120A>G rs778270030
NM_002076.4(GNS):c.-83G>C
NM_002076.4(GNS):c.1104G>T (p.Leu368=)
NM_002076.4(GNS):c.1153G>A (p.Asp385Asn) rs138335335
NM_002076.4(GNS):c.1261C>T (p.Arg421Cys)
NM_002076.4(GNS):c.1309-6C>G
NM_002076.4(GNS):c.1434C>G (p.Val478=) rs141958901
NM_002076.4(GNS):c.1616G>A (p.Arg539His)
NM_002076.4(GNS):c.16C>G (p.Leu6Val)
NM_002076.4(GNS):c.229A>G (p.Met77Val)
NM_002076.4(GNS):c.285A>G (p.Arg95=) rs545765198
NM_002076.4(GNS):c.337A>G (p.Thr113Ala) rs886049772
NM_002076.4(GNS):c.4C>T (p.Arg2Trp) rs200441930
NM_002076.4(GNS):c.577C>T (p.Arg193Trp)
NM_002076.4(GNS):c.5G>C (p.Arg2Pro)
NM_002076.4(GNS):c.624+10A>G rs757526895
NM_002076.4(GNS):c.682A>G (p.Met228Val)
NM_002076.4(GNS):c.688G>A (p.Ala230Thr) rs140270805
NM_002076.4(GNS):c.73G>A (p.Ala25Thr) rs540537083
NM_002076.4(GNS):c.791C>T (p.Thr264Met)
NM_002076.4(GNS):c.876-13T>C
NM_002076.4(GNS):c.939T>G (p.Thr313=)
NM_002076.4(GNS):c.968A>G (p.Tyr323Cys)
NM_014226.3(MOK):c.630_631dup (p.Ile211fs) rs769431982

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.