ClinVar Miner

List of variants reported as uncertain significance for Deafness, autosomal recessive 67 by Illumina Clinical Services Laboratory,Illumina

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 60
Download table as spreadsheet
HGVS dbSNP
NM_182548.3(LHFPL5):c.-335A>G rs886061339
NM_182548.3(LHFPL5):c.-337G>T rs187215821
NM_182548.4(LHFPL5):c.*1010G>A rs527915117
NM_182548.4(LHFPL5):c.*1035C>T rs186453856
NM_182548.4(LHFPL5):c.*169G>C rs181922784
NM_182548.4(LHFPL5):c.*170A>G rs886061346
NM_182548.4(LHFPL5):c.*199A>G
NM_182548.4(LHFPL5):c.*231G>C rs189788458
NM_182548.4(LHFPL5):c.*241G>A
NM_182548.4(LHFPL5):c.*385C>T rs567038240
NM_182548.4(LHFPL5):c.*386A>T
NM_182548.4(LHFPL5):c.*417T>C
NM_182548.4(LHFPL5):c.*419T>C rs146860559
NM_182548.4(LHFPL5):c.*421T>C
NM_182548.4(LHFPL5):c.*425C>T
NM_182548.4(LHFPL5):c.*427C>T
NM_182548.4(LHFPL5):c.*429C>T
NM_182548.4(LHFPL5):c.*431C>T
NM_182548.4(LHFPL5):c.*433C>T
NM_182548.4(LHFPL5):c.*443C>T
NM_182548.4(LHFPL5):c.*449C>T rs57339676
NM_182548.4(LHFPL5):c.*457C>T rs866657668
NM_182548.4(LHFPL5):c.*459C>T rs886061352
NM_182548.4(LHFPL5):c.*461T>C
NM_182548.4(LHFPL5):c.*465T>C rs199534465
NM_182548.4(LHFPL5):c.*475C>T rs13205046
NM_182548.4(LHFPL5):c.*477T>C rs868411000
NM_182548.4(LHFPL5):c.*479T>C
NM_182548.4(LHFPL5):c.*487C>T
NM_182548.4(LHFPL5):c.*489C>T
NM_182548.4(LHFPL5):c.*501C>G
NM_182548.4(LHFPL5):c.*506A>T
NM_182548.4(LHFPL5):c.*508A>T
NM_182548.4(LHFPL5):c.*510A>T
NM_182548.4(LHFPL5):c.*514T>A rs575842617
NM_182548.4(LHFPL5):c.*516T>A
NM_182548.4(LHFPL5):c.*609G>A
NM_182548.4(LHFPL5):c.*778C>T rs146335201
NM_182548.4(LHFPL5):c.*779G>A rs139570565
NM_182548.4(LHFPL5):c.*790A>G rs886061372
NM_182548.4(LHFPL5):c.*803A>G rs73404033
NM_182548.4(LHFPL5):c.*827G>T rs545462913
NM_182548.4(LHFPL5):c.-128C>T rs146758343
NM_182548.4(LHFPL5):c.-132A>G rs143126474
NM_182548.4(LHFPL5):c.-161A>G rs886061342
NM_182548.4(LHFPL5):c.-305G>A rs886061340
NM_182548.4(LHFPL5):c.-30G>C rs375993440
NM_182548.4(LHFPL5):c.-63C>G rs41270084
NM_182548.4(LHFPL5):c.-93C>T rs540528658
NM_182548.4(LHFPL5):c.140C>A (p.Pro47His) rs886061343
NM_182548.4(LHFPL5):c.206T>C (p.Val69Ala) rs886061344
NM_182548.4(LHFPL5):c.335T>C (p.Ile112Thr) rs202178128
NM_182548.4(LHFPL5):c.366C>T (p.Asn122=) rs147162459
NM_182548.4(LHFPL5):c.372C>T (p.Ala124=) rs886061345
NM_182548.4(LHFPL5):c.411G>T (p.Ala137=)
NM_182548.4(LHFPL5):c.43C>T (p.His15Tyr) rs149941106
NM_182548.4(LHFPL5):c.506C>T (p.Thr169Met) rs372084864
NM_182548.4(LHFPL5):c.527G>A (p.Arg176His)
NM_182548.4(LHFPL5):c.650A>G (p.Glu217Gly)
NM_182548.4(LHFPL5):c.82A>T (p.Met28Leu)

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.