ClinVar Miner

List of variants in gene P2RX2 studied for autosomal dominant nonsyndromic hearing loss 41

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 15
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_170682.4(P2RX2):c.468T>C (p.Thr156=) rs7964634 0.67274
NM_170682.4(P2RX2):c.636-13G>A rs6560891 0.66828
NM_170682.4(P2RX2):c.997-40C>T rs4883632 0.53086
NM_170682.4(P2RX2):c.381+2T>C rs200978001 0.00022
NM_170682.4(P2RX2):c.905G>C (p.Arg302Thr) rs2041656946 0.00001
NM_170682.4(P2RX2):c.1037C>G (p.Ala346Gly)
NM_170682.4(P2RX2):c.1055T>G (p.Val352Gly) rs2138394748
NM_170682.4(P2RX2):c.1057G>C (p.Gly353Arg) rs202138002
NM_170682.4(P2RX2):c.1325_1335del (p.Ile441_Ser442insTer) rs876657423
NM_170682.4(P2RX2):c.173+28_173+41del rs200710959
NM_170682.4(P2RX2):c.178G>T (p.Val60Leu) rs587777692
NM_170682.4(P2RX2):c.459_554+1dup rs2138365971
NM_170682.4(P2RX2):c.490C>T (p.Gln164Ter) rs1488690731
NM_170682.4(P2RX2):c.774G>A (p.Lys258=)
NM_170682.4(P2RX2):c.804_806del (p.Trp268_Asp269delinsCys)

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.