ClinVar Miner

List of variants in gene NBEAL2 studied for Inborn genetic diseases

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 187
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_015175.3(NBEAL2):c.1634C>T (p.Ser545Leu) rs201749187 0.00151
NM_015175.3(NBEAL2):c.5021G>A (p.Arg1674His) rs200622688 0.00088
NM_015175.3(NBEAL2):c.2375G>A (p.Arg792Gln) rs140354422 0.00061
NM_015175.3(NBEAL2):c.6352G>A (p.Val2118Ile) rs146270553 0.00056
NM_015175.3(NBEAL2):c.6736G>A (p.Asp2246Asn) rs372963074 0.00021
NM_015175.3(NBEAL2):c.1618C>T (p.Arg540Trp) rs201777850 0.00020
NM_015175.3(NBEAL2):c.5335C>T (p.Arg1779Cys) rs199944912 0.00019
NM_015175.3(NBEAL2):c.6880G>A (p.Glu2294Lys) rs201342229 0.00017
NM_015175.3(NBEAL2):c.3308G>A (p.Arg1103Gln) rs374012992 0.00013
NM_015175.3(NBEAL2):c.544G>A (p.Ala182Thr) rs745890949 0.00012
NM_015175.3(NBEAL2):c.2195C>T (p.Thr732Met) rs376623029 0.00011
NM_015175.3(NBEAL2):c.1613G>A (p.Arg538His) rs368310677 0.00010
NM_015175.3(NBEAL2):c.3135G>A (p.Met1045Ile) rs373596976 0.00010
NM_015175.3(NBEAL2):c.8096G>A (p.Arg2699His) rs376357238 0.00010
NM_015175.3(NBEAL2):c.1871G>A (p.Arg624Gln) rs374527787 0.00009
NM_015175.3(NBEAL2):c.1764G>A (p.Ala588=) rs776191203 0.00007
NM_015175.3(NBEAL2):c.4846G>A (p.Glu1616Lys) rs779806471 0.00007
NM_015175.3(NBEAL2):c.6212G>A (p.Arg2071His) rs200204458 0.00005
NM_015175.3(NBEAL2):c.1762G>A (p.Ala588Thr) rs766113174 0.00003
NM_015175.3(NBEAL2):c.3184G>A (p.Val1062Ile) rs775313250 0.00003
NM_015175.3(NBEAL2):c.5900G>A (p.Arg1967Gln) rs374748722 0.00003
NM_015175.3(NBEAL2):c.1687C>T (p.Arg563Cys) rs527658542 0.00002
NM_015175.3(NBEAL2):c.3529G>A (p.Asp1177Asn) rs746255435 0.00002
NM_015175.3(NBEAL2):c.1393G>A (p.Ala465Thr) rs746838327 0.00001
NM_015175.3(NBEAL2):c.7442A>G (p.Asp2481Gly) rs886043642 0.00001
NM_015175.3(NBEAL2):c.1049G>A (p.Arg350Gln)
NM_015175.3(NBEAL2):c.1052C>T (p.Ala351Val)
NM_015175.3(NBEAL2):c.1084C>T (p.Arg362Trp)
NM_015175.3(NBEAL2):c.1108C>G (p.Gln370Glu)
NM_015175.3(NBEAL2):c.1122C>G (p.Asp374Glu)
NM_015175.3(NBEAL2):c.1253A>G (p.His418Arg)
NM_015175.3(NBEAL2):c.1255G>T (p.Gly419Cys)
NM_015175.3(NBEAL2):c.1307G>A (p.Gly436Asp)
NM_015175.3(NBEAL2):c.1333C>T (p.Pro445Ser)
NM_015175.3(NBEAL2):c.1339C>T (p.Arg447Cys)
NM_015175.3(NBEAL2):c.1357C>G (p.Leu453Val)
NM_015175.3(NBEAL2):c.1360G>A (p.Val454Met)
NM_015175.3(NBEAL2):c.1409T>A (p.Phe470Tyr)
NM_015175.3(NBEAL2):c.1487G>A (p.Gly496Asp)
NM_015175.3(NBEAL2):c.148G>A (p.Glu50Lys)
NM_015175.3(NBEAL2):c.1532G>A (p.Arg511His)
NM_015175.3(NBEAL2):c.1574G>A (p.Arg525His)
NM_015175.3(NBEAL2):c.1625G>A (p.Gly542Glu)
NM_015175.3(NBEAL2):c.1663G>A (p.Ala555Thr)
NM_015175.3(NBEAL2):c.1688G>A (p.Arg563His)
NM_015175.3(NBEAL2):c.1751C>T (p.Thr584Met)
NM_015175.3(NBEAL2):c.1760T>C (p.Met587Thr)
NM_015175.3(NBEAL2):c.1783G>A (p.Val595Ile)
NM_015175.3(NBEAL2):c.1790G>A (p.Arg597Gln)
NM_015175.3(NBEAL2):c.1819G>T (p.Ala607Ser)
NM_015175.3(NBEAL2):c.1957G>A (p.Val653Met)
NM_015175.3(NBEAL2):c.1973C>G (p.Thr658Arg)
NM_015175.3(NBEAL2):c.2024C>T (p.Ser675Phe)
NM_015175.3(NBEAL2):c.2078A>G (p.Gln693Arg)
NM_015175.3(NBEAL2):c.2090A>G (p.His697Arg)
NM_015175.3(NBEAL2):c.2189G>A (p.Arg730His)
NM_015175.3(NBEAL2):c.2207C>A (p.Thr736Lys)
NM_015175.3(NBEAL2):c.2233G>A (p.Ala745Thr)
NM_015175.3(NBEAL2):c.2257G>A (p.Ala753Thr)
NM_015175.3(NBEAL2):c.2390C>T (p.Thr797Ile)
NM_015175.3(NBEAL2):c.2401G>A (p.Gly801Ser)
NM_015175.3(NBEAL2):c.2431G>A (p.Glu811Lys)
NM_015175.3(NBEAL2):c.2440C>G (p.Gln814Glu)
NM_015175.3(NBEAL2):c.2762G>T (p.Gly921Val)
NM_015175.3(NBEAL2):c.2779G>A (p.Gly927Ser)
NM_015175.3(NBEAL2):c.277G>C (p.Glu93Gln)
NM_015175.3(NBEAL2):c.2787C>A (p.Asn929Lys)
NM_015175.3(NBEAL2):c.2789C>T (p.Thr930Ile)
NM_015175.3(NBEAL2):c.2843A>G (p.Asn948Ser)
NM_015175.3(NBEAL2):c.2855C>G (p.Ala952Gly)
NM_015175.3(NBEAL2):c.2929C>T (p.Pro977Ser)
NM_015175.3(NBEAL2):c.2953C>G (p.Arg985Gly)
NM_015175.3(NBEAL2):c.2986G>A (p.Val996Met)
NM_015175.3(NBEAL2):c.299G>A (p.Gly100Asp)
NM_015175.3(NBEAL2):c.3091A>G (p.Thr1031Ala)
NM_015175.3(NBEAL2):c.3158G>T (p.Arg1053Ile)
NM_015175.3(NBEAL2):c.3253G>A (p.Asp1085Asn) rs772177163
NM_015175.3(NBEAL2):c.3263C>T (p.Thr1088Ile)
NM_015175.3(NBEAL2):c.3297G>C (p.Glu1099Asp)
NM_015175.3(NBEAL2):c.3379G>A (p.Gly1127Ser)
NM_015175.3(NBEAL2):c.3388G>A (p.Val1130Met)
NM_015175.3(NBEAL2):c.3443C>A (p.Ser1148Tyr)
NM_015175.3(NBEAL2):c.3502C>T (p.Arg1168Trp)
NM_015175.3(NBEAL2):c.3546C>G (p.Ile1182Met)
NM_015175.3(NBEAL2):c.3550C>A (p.Arg1184Ser)
NM_015175.3(NBEAL2):c.3551G>A (p.Arg1184His)
NM_015175.3(NBEAL2):c.3583C>T (p.Arg1195Trp)
NM_015175.3(NBEAL2):c.3601C>T (p.Arg1201Trp)
NM_015175.3(NBEAL2):c.3646G>A (p.Glu1216Lys)
NM_015175.3(NBEAL2):c.3686A>G (p.Lys1229Arg)
NM_015175.3(NBEAL2):c.3693C>G (p.Phe1231Leu)
NM_015175.3(NBEAL2):c.371C>T (p.Pro124Leu)
NM_015175.3(NBEAL2):c.3766G>A (p.Val1256Ile)
NM_015175.3(NBEAL2):c.3803T>C (p.Ile1268Thr)
NM_015175.3(NBEAL2):c.3839G>A (p.Arg1280Gln)
NM_015175.3(NBEAL2):c.3869G>A (p.Arg1290Gln)
NM_015175.3(NBEAL2):c.3903C>A (p.Ser1301Arg)
NM_015175.3(NBEAL2):c.3938C>G (p.Pro1313Arg)
NM_015175.3(NBEAL2):c.4045C>G (p.Leu1349Val)
NM_015175.3(NBEAL2):c.4073T>C (p.Leu1358Pro)
NM_015175.3(NBEAL2):c.4114G>C (p.Gly1372Arg)
NM_015175.3(NBEAL2):c.4156C>T (p.Pro1386Ser)
NM_015175.3(NBEAL2):c.4186C>T (p.Arg1396Trp)
NM_015175.3(NBEAL2):c.4210C>T (p.Arg1404Cys)
NM_015175.3(NBEAL2):c.4217G>T (p.Ser1406Ile)
NM_015175.3(NBEAL2):c.4355C>T (p.Ser1452Leu)
NM_015175.3(NBEAL2):c.4366C>T (p.Arg1456Cys)
NM_015175.3(NBEAL2):c.4372G>A (p.Val1458Met)
NM_015175.3(NBEAL2):c.4522A>G (p.Ile1508Val)
NM_015175.3(NBEAL2):c.4637G>A (p.Ser1546Asn)
NM_015175.3(NBEAL2):c.4654G>A (p.Gly1552Ser)
NM_015175.3(NBEAL2):c.4676G>T (p.Arg1559Leu)
NM_015175.3(NBEAL2):c.4727T>C (p.Met1576Thr)
NM_015175.3(NBEAL2):c.4728G>A (p.Met1576Ile)
NM_015175.3(NBEAL2):c.4759T>A (p.Tyr1587Asn)
NM_015175.3(NBEAL2):c.4786C>T (p.His1596Tyr)
NM_015175.3(NBEAL2):c.4843C>T (p.Arg1615Cys)
NM_015175.3(NBEAL2):c.4951G>A (p.Ala1651Thr)
NM_015175.3(NBEAL2):c.4975G>A (p.Glu1659Lys)
NM_015175.3(NBEAL2):c.506A>G (p.Tyr169Cys)
NM_015175.3(NBEAL2):c.5086A>G (p.Thr1696Ala)
NM_015175.3(NBEAL2):c.5114G>A (p.Cys1705Tyr)
NM_015175.3(NBEAL2):c.5132G>A (p.Arg1711His)
NM_015175.3(NBEAL2):c.5186C>T (p.Thr1729Met)
NM_015175.3(NBEAL2):c.5192C>T (p.Ala1731Val)
NM_015175.3(NBEAL2):c.5204A>G (p.Asp1735Gly)
NM_015175.3(NBEAL2):c.5211G>A (p.Met1737Ile)
NM_015175.3(NBEAL2):c.5261G>A (p.Arg1754Gln)
NM_015175.3(NBEAL2):c.5263C>A (p.Arg1755Ser)
NM_015175.3(NBEAL2):c.5263C>T (p.Arg1755Cys)
NM_015175.3(NBEAL2):c.5288G>A (p.Arg1763His)
NM_015175.3(NBEAL2):c.5291G>A (p.Arg1764Gln)
NM_015175.3(NBEAL2):c.5330G>A (p.Arg1777Gln)
NM_015175.3(NBEAL2):c.5332G>A (p.Ala1778Thr)
NM_015175.3(NBEAL2):c.5380A>T (p.Thr1794Ser)
NM_015175.3(NBEAL2):c.5422C>T (p.Arg1808Cys)
NM_015175.3(NBEAL2):c.5441G>A (p.Cys1814Tyr)
NM_015175.3(NBEAL2):c.5477G>A (p.Arg1826His)
NM_015175.3(NBEAL2):c.5534A>G (p.Asn1845Ser)
NM_015175.3(NBEAL2):c.554A>G (p.Gln185Arg)
NM_015175.3(NBEAL2):c.5608G>A (p.Glu1870Lys)
NM_015175.3(NBEAL2):c.5657C>G (p.Thr1886Ser)
NM_015175.3(NBEAL2):c.5689G>A (p.Gly1897Ser)
NM_015175.3(NBEAL2):c.5745G>C (p.Glu1915Asp)
NM_015175.3(NBEAL2):c.5782C>G (p.Leu1928Val)
NM_015175.3(NBEAL2):c.5794G>A (p.Val1932Met)
NM_015175.3(NBEAL2):c.5854A>G (p.Ser1952Gly)
NM_015175.3(NBEAL2):c.602G>A (p.Arg201His)
NM_015175.3(NBEAL2):c.6064C>A (p.Pro2022Thr)
NM_015175.3(NBEAL2):c.6094C>T (p.Arg2032Trp)
NM_015175.3(NBEAL2):c.6101A>C (p.Gln2034Pro)
NM_015175.3(NBEAL2):c.6229G>C (p.Glu2077Gln)
NM_015175.3(NBEAL2):c.6257C>T (p.Ala2086Val)
NM_015175.3(NBEAL2):c.6319G>A (p.Val2107Met)
NM_015175.3(NBEAL2):c.6400G>A (p.Ala2134Thr)
NM_015175.3(NBEAL2):c.6449C>G (p.Thr2150Ser)
NM_015175.3(NBEAL2):c.6682A>G (p.Asn2228Asp)
NM_015175.3(NBEAL2):c.671G>C (p.Gly224Ala)
NM_015175.3(NBEAL2):c.6764C>T (p.Ser2255Phe)
NM_015175.3(NBEAL2):c.7061G>A (p.Arg2354His)
NM_015175.3(NBEAL2):c.7096T>C (p.Phe2366Leu)
NM_015175.3(NBEAL2):c.7106T>C (p.Leu2369Pro)
NM_015175.3(NBEAL2):c.7153C>T (p.Pro2385Ser)
NM_015175.3(NBEAL2):c.7159G>C (p.Val2387Leu)
NM_015175.3(NBEAL2):c.7180C>T (p.Arg2394Trp)
NM_015175.3(NBEAL2):c.7237G>A (p.Ala2413Thr)
NM_015175.3(NBEAL2):c.725C>T (p.Pro242Leu)
NM_015175.3(NBEAL2):c.7318A>G (p.Thr2440Ala)
NM_015175.3(NBEAL2):c.7337C>T (p.Thr2446Met)
NM_015175.3(NBEAL2):c.7616T>C (p.Val2539Ala)
NM_015175.3(NBEAL2):c.7627C>G (p.Pro2543Ala)
NM_015175.3(NBEAL2):c.7774C>T (p.Arg2592Trp)
NM_015175.3(NBEAL2):c.7775G>A (p.Arg2592Gln)
NM_015175.3(NBEAL2):c.779T>C (p.Val260Ala)
NM_015175.3(NBEAL2):c.7838T>C (p.Ile2613Thr)
NM_015175.3(NBEAL2):c.7901A>G (p.Tyr2634Cys)
NM_015175.3(NBEAL2):c.7921C>T (p.Arg2641Trp)
NM_015175.3(NBEAL2):c.7963G>A (p.Val2655Met)
NM_015175.3(NBEAL2):c.805C>T (p.Arg269Cys)
NM_015175.3(NBEAL2):c.8071C>A (p.Arg2691Ser)
NM_015175.3(NBEAL2):c.8168G>A (p.Arg2723His)
NM_015175.3(NBEAL2):c.8181C>G (p.Phe2727Leu)
NM_015175.3(NBEAL2):c.821G>C (p.Arg274Pro)
NM_015175.3(NBEAL2):c.8246A>G (p.Asn2749Ser)
NM_015175.3(NBEAL2):c.842T>G (p.Phe281Cys)
NM_015175.3(NBEAL2):c.881C>T (p.Ser294Leu)
NM_015175.3(NBEAL2):c.940A>G (p.Met314Val)

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.