ClinVar Miner

List of variants studied for hereditary skeletal muscle disorder by Genomic Medicine Lab, University of California San Francisco

Included ClinVar conditions (587):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 20
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_000426.4(LAMA2):c.4348C>T (p.Arg1450Ter) rs200923373 0.00001
NM_013382.7(POMT2):c.1976G>A (p.Arg659Gln) rs770606360 0.00001
NC_012920.1(MT-TL1):m.3243A>G rs199474657
NM_000334.4(SCN4A):c.3891C>A (p.Asn1297Lys) rs121908560
NM_001267550.2(TTN):c.34251_34257del (p.Leu11418fs) rs2154268621
NM_001267550.2(TTN):c.51624_51654dup (p.Gln17219delinsSerLysArgThrTer) rs1553692107
NM_001267550.2(TTN):c.53881+5G>T rs753527304
NM_001267550.2(TTN):c.54023_54024insC (p.Glu18008fs)
NM_001267550.2(TTN):c.58684A>G (p.Ile19562Val) rs397517637
NM_001267550.2(TTN):c.70015del (p.Glu23339fs)
NM_001458.5(FLNC):c.3238C>T (p.Pro1080Ser) rs950648783
NM_001848.3(COL6A1):c.850G>A (p.Gly284Arg) rs121912938
NM_001849.4(COL6A2):c.111C>A (p.Cys37Ter) rs986393872
NM_002430.3(MN1):c.3839del (p.Cys1280fs) rs1601319594
NM_006767.4(LZTR1):c.955del (p.Gln319fs) rs1386054181
NM_012082.4(ZFPM2):c.349C>T (p.Arg117Ter)
NM_013382.7(POMT2):c.2030C>T (p.Thr677Ile)
NM_013382.7(POMT2):c.2197C>T (p.Gln733Ter) rs1452558347
NM_018684.4(ZC4H2):c.592C>T (p.Arg198Trp) rs137962226
NM_018684.4(ZC4H2):c.631C>T (p.Arg211Trp) rs1555933616

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.