ClinVar Miner

List of variants reported as likely benign for X-linked nonsyndromic hearing loss

Included ClinVar conditions (11):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 27
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_004004.6(GJB2):c.-216T>G rs574815423 0.01243
NM_002764.4(PRPS1):c.477C>T (p.Ile159=) rs61752962 0.00596
NM_004208.4(AIFM1):c.1833T>C (p.His611=) rs73556209 0.00551
NM_004004.6(GJB2):c.341A>G (p.Glu114Gly) rs2274083 0.00499
NM_004208.4(AIFM1):c.103C>T (p.Pro35Ser) rs61730896 0.00489
NM_004208.4(AIFM1):c.1227T>G (p.Thr409=) rs61730898 0.00188
NM_004004.6(GJB2):c.249C>G (p.Phe83Leu) rs111033218 0.00150
NM_000307.5(POU3F4):c.*105C>T rs777244703 0.00107
NM_002764.4(PRPS1):c.447G>A (p.Pro149=) rs80338730 0.00068
NM_002764.3(PRPS1):c.-153delG rs768856537 0.00057
NM_002764.4(PRPS1):c.705-11T>C rs190164271 0.00052
NM_002764.4(PRPS1):c.573G>A (p.Leu191=) rs770518315 0.00035
NM_004004.6(GJB2):c.368C>A (p.Thr123Asn) rs111033188 0.00014
NM_000307.5(POU3F4):c.24C>T (p.Pro8=) rs756362293 0.00005
NM_002764.4(PRPS1):c.288G>A (p.Arg96=) rs752194539 0.00005
NM_001110219.3(GJB6):c.396G>A (p.Leu132=) rs189971962 0.00004
NM_002764.4(PRPS1):c.720C>T (p.Gly240=) rs746885792 0.00004
NM_002764.4(PRPS1):c.444G>A (p.Glu148=) rs201285459 0.00003
NM_004004.6(GJB2):c.195C>T (p.Tyr65=) rs763572195 0.00003
NM_004208.4(AIFM1):c.1113C>T (p.Ser371=) rs724160027 0.00003
NM_033641.4(COL4A6):c.2013C>T (p.Pro671=) rs200299007 0.00003
NM_033641.4(COL4A6):c.4642G>A (p.Ala1548Thr) rs766360534 0.00002
NM_004004.6(GJB2):c.474C>T (p.Tyr158=) rs375759781 0.00001
NM_033641.4(COL4A6):c.1654A>T (p.Ile552Phe) rs748877857 0.00001
NM_000307.5(POU3F4):c.*227CTTCC[3] rs763018226
NM_002764.4(PRPS1):c.123-16dup rs750392051
NM_004208.4(AIFM1):c.597A>G (p.Lys199=) rs143670174

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.