ClinVar Miner

List of variants reported as not provided for spinal muscular atrophy by GenomeConnect - Invitae Patient Insights Network

Included ClinVar conditions (88):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 20
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_001376.5(DYNC1H1):c.5971G>A (p.Asp1991Asn) rs151001016 0.00030
NM_006736.6(DNAJB2):c.230-2A>G rs369661561 0.00012
NM_205836.3(FBXO38):c.11G>A (p.Arg4Gln) rs148337492 0.00006
NM_001376.5(DYNC1H1):c.2869-3C>T rs750614475 0.00004
NM_020631.6(PLEKHG5):c.571C>T (p.Arg191Trp) rs183712624 0.00004
NM_000052.7(ATP7A):c.4424A>G (p.Asn1475Ser) rs782774219 0.00003
NM_001003800.2(BICD2):c.641G>A (p.Arg214His) rs373760993 0.00002
NM_004082.5(DCTN1):c.2477C>T (p.Thr826Met) rs766585070 0.00002
NM_001376.5(DYNC1H1):c.13414G>A (p.Gly4472Ser) rs199692678 0.00001
NM_002180.3(IGHMBP2):c.830A>G (p.Gln277Arg) rs112495985 0.00001
NM_020631.6(PLEKHG5):c.1054A>G (p.Ile352Val) rs200802048 0.00001
NM_020631.6(PLEKHG5):c.2127T>A (p.Asp709Glu) rs910994587 0.00001
NM_021625.5(TRPV4):c.686C>T (p.Ser229Leu) rs373980330 0.00001
NM_205836.3(FBXO38):c.3277G>A (p.Val1093Ile) rs779324806 0.00001
GRCh37/hg19 5q13.2(chr5:70220768-70247953)x0
NM_001376.5(DYNC1H1):c.13777G>A (p.Val4593Ile) rs750566844
NM_002180.3(IGHMBP2):c.181G>A (p.Gly61Arg) rs1057518943
NM_002180.3(IGHMBP2):c.791G>A (p.Arg264His) rs777575504
NM_004082.5(DCTN1):c.1504C>T (p.Arg502Cys) rs145958900
NM_004082.5(DCTN1):c.1807C>A (p.His603Asn) rs1558939544

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.