ClinVar Miner

List of variants reported as likely pathogenic by HSP Biomedical Diagnostics Department, Hospital San Pedro

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 23
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_000051.4(ATM):c.6899G>C (p.Trp2300Ser) rs1555119899
NM_000094.4(COL7A1):c.7624G>A (p.Gly2542Arg)
NM_000166.6(GJB1):c.406_407dup (p.Ile137fs)
NM_000263.4(NAGLU):c.1304A>C (p.Asn435Thr) rs764815033
NM_000368.5(TSC1):c.1324A>T (p.Arg442Ter) rs1845724649
NM_000516.7(GNAS):c.403_411del (p.Met135_Val137del) rs2146184726
NM_000540.3(RYR1):c.14809A>G (p.Ile4937Val) rs2145917369
NM_001112741.2(KCNC1):c.1023C>G (p.Ser341Arg)
NM_001130438.3(SPTAN1):c.4640T>A (p.Leu1547Gln) rs1856289676
NM_001195553.2(DCX):c.1057C>T (p.Pro353Ser)
NM_001303052.2(MYT1L):c.1532G>A (p.Cys511Tyr)
NM_001353214.3(DYM):c.54_55insC (p.Lys19fs) rs2148459355
NM_001356.5(DDX3X):c.544-8_544-6del rs2063875026
NM_001457.4(FLNB):c.2772del (p.Thr923_Tyr924insTer)
NM_002074.5(GNB1):c.496T>C (p.Cys166Arg) rs2100546091
NM_004519.4(KCNQ3):c.104_105del (p.Ala35fs) rs1822523749
NM_014231.5(VAMP1):c.152dup (p.Asn51fs)
NM_014927.5(CNKSR2):c.2185C>T (p.Arg729Ter)
NM_017635.5(KMT5B):c.2347C>T (p.Arg783Ter)
NM_018896.5(CACNA1G):c.4593G>A (p.Met1531Ile)
NM_033380.3(COL4A5):c.671G>T (p.Gly224Val) rs2147770618
NM_130837.3(OPA1):c.164dup (p.Leu55fs) rs1728771454
NM_207037.2(TCF12):c.1036-6G>A

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.