ClinVar Miner

List of variants studied for Matthew-Wood syndrome by OMIM

Included ClinVar conditions (16):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 29
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_020634.3(GDF3):c.796C>T (p.Arg266Cys) rs140926412 0.00188
NM_022369.4(STRA6):c.961A>C (p.Thr321Pro) rs118203962 0.00041
NM_001001557.4(GDF6):c.595G>A (p.Ala199Thr) rs387906794 0.00005
NM_022369.4(STRA6):c.1931C>T (p.Thr644Met) rs118203960 0.00004
NM_020634.3(GDF3):c.820C>T (p.Arg274Trp) rs387906946 0.00003
NM_022369.4(STRA6):c.1963C>T (p.Arg655Cys) rs118203959 0.00002
NM_005689.4(ABCB6):c.169G>A (p.Ala57Thr) rs387906911 0.00001
NM_022369.4(STRA6):c.1521-1G>A rs397518484 0.00001
NM_022369.4(STRA6):c.1964G>A (p.Arg655His) rs397514639 0.00001
NM_022369.4(STRA6):c.69G>A (p.Trp23Ter) rs267607096 0.00001
NM_022369.4(STRA6):c.878C>T (p.Pro293Leu) rs118203958 0.00001
NM_182894.3(VSX2):c.371-1G>A rs1395124261 0.00001
NM_000193.4(SHH):c.1210_1233del (p.Gly404_Gly411del) rs780129844
NM_000965.5(RARB):c.1159C>A (p.Arg387Ser) rs397518483
NM_000965.5(RARB):c.1159C>T (p.Arg387Cys) rs397518483
NM_000965.5(RARB):c.1205_1206dup (p.Ile403fs) rs397518482
NM_000965.5(RARB):c.355C>T (p.Arg119Ter) rs397518481
NM_001080477.4(TENM3):c.2083dup (p.Thr695fs) rs587776950
NM_005689.4(ABCB6):c.2431C>G (p.Leu811Val) rs387906910
NM_006744.4(RBP4):c.217G>A (p.Ala73Thr) rs794726862
NM_006744.4(RBP4):c.223G>A (p.Ala75Thr) rs794726861
NM_022369.4(STRA6):c.113+3_113+4del rs1555457882
NM_022369.4(STRA6):c.147del (p.Gly50fs) rs606231125
NM_022369.4(STRA6):c.1678G>C (p.Asp560His) rs397514638
NM_022369.4(STRA6):c.269C>T (p.Pro90Leu) rs118203961
NM_022369.4(STRA6):c.35_36dup (p.Gly13fs) rs1555457919
NM_022369.4(STRA6):c.50_52delinsCC (p.Asp17fs) rs606231126
NM_022369.4(STRA6):c.527dup (p.Ser177fs) rs606231127
NM_022369.4(STRA6):c.910_911delinsAA (p.Gly304Lys) rs151341424

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.