ClinVar Miner

List of variants reported as likely pathogenic by Kids Research, The Children's Hospital at Westmead

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 25
Download table as spreadsheet
HGVS dbSNP
NC_000008.10:g.11667760_11787743del119984
NC_012920.1:m.7453G>A
NM_000151.4(G6PC1):c.1051C>T (p.Gln351Ter)
NM_001135146.2(SLC39A8):c.338G>C (p.Cys113Ser)
NM_001172477.1(RRM2B):c.334C>T (p.Arg112Cys) rs776184830
NM_001287742.1(FDFT1):c.-75+131_-75+146del rs1563290033
NM_001303.4(COX10):c.982G>A (p.Ala328Thr) rs777911169
NM_004092.4(ECHS1):c.476A>G (p.Gln159Arg) rs375032130
NM_004092.4(ECHS1):c.538A>G (p.Thr180Ala) rs557128093
NM_004462.5(FDFT1):c.880-24_880-23delinsAG rs1563339323
NM_014049.5(ACAD9):c.632A>G (p.Lys211Arg)
NM_014049.5(ACAD9):c.842C>T (p.Pro281Leu)
NM_015340.4(LARS2):c.1313A>G (p.Asp438Gly) rs1575289366
NM_015340.4(LARS2):c.1607C>T (p.Pro536Leu) rs1575292827
NM_015340.4(LARS2):c.2099C>T (p.Thr700Ile) rs1575308774
NM_015340.4(LARS2):c.308G>A (p.Arg103His) rs757204777
NM_015340.4(LARS2):c.388G>A (p.Ala130Thr) rs1575240334
NM_015340.4(LARS2):c.440A>C (p.Gln147Pro) rs536853368
NM_015340.4(LARS2):c.683G>A (p.Arg228His) rs770440975
NM_015909.4(NBAS):c.2423+404G>C
NM_015909.4(NBAS):c.2617C>T (p.Arg873Trp)
NM_016120.4(RLIM):c.1262A>G (p.Tyr421Cys)
NM_020964.3(EPG5):c.6049+5G>A
NM_024996.7(GFM1):c.952C>T (p.Pro318Ser)
NM_139058.3(ARX):c.1607G>C (p.Arg536Thr)

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.