ClinVar Miner

List of variants in gene LOXHD1 reported as uncertain significance by Ambry Genetics

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Gene type:
ClinVar version:
Total variants: 121
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HGVS dbSNP gnomAD frequency
NM_001384474.1(LOXHD1):c.2264G>T (p.Gly755Val) rs188517529 0.00293
NM_001384474.1(LOXHD1):c.4720G>A (p.Glu1574Lys) rs78427072 0.00246
NM_001384474.1(LOXHD1):c.5767C>G (p.Gln1923Glu) rs377368588 0.00137
NM_001384474.1(LOXHD1):c.3673A>G (p.Ser1225Gly) rs370149278 0.00103
NM_001384474.1(LOXHD1):c.3449A>G (p.Gln1150Arg) rs201576880 0.00088
NM_001384474.1(LOXHD1):c.2684C>G (p.Thr895Ser) rs115042043 0.00073
NM_001384474.1(LOXHD1):c.1162A>G (p.Ile388Val) rs115395163 0.00064
NM_001384474.1(LOXHD1):c.6460G>A (p.Val2154Ile) rs182149228 0.00041
NM_001384474.1(LOXHD1):c.722A>G (p.Asn241Ser) rs191697915 0.00041
NM_001384474.1(LOXHD1):c.166G>A (p.Gly56Ser) rs200763838 0.00036
NM_001384474.1(LOXHD1):c.4504C>T (p.Arg1502Trp) rs200819355 0.00030
NM_001384474.1(LOXHD1):c.4180G>A (p.Val1394Met) rs368216643 0.00026
NM_001384474.1(LOXHD1):c.1571G>A (p.Arg524His) rs187658135 0.00022
NM_001384474.1(LOXHD1):c.3013A>C (p.Asn1005His) rs552955487 0.00019
NM_001384474.1(LOXHD1):c.5993C>T (p.Thr1998Met) rs538782734 0.00017
NM_001384474.1(LOXHD1):c.868G>A (p.Gly290Arg) rs564030670 0.00016
NM_001384474.1(LOXHD1):c.5822C>T (p.Pro1941Leu) rs958951917 0.00015
NM_001384474.1(LOXHD1):c.5390A>G (p.Lys1797Arg) rs368286192 0.00013
NM_001384474.1(LOXHD1):c.3236A>G (p.Tyr1079Cys) rs367863703 0.00012
NM_001384474.1(LOXHD1):c.683C>T (p.Pro228Leu) rs372408513 0.00012
NM_001384474.1(LOXHD1):c.5387A>G (p.Lys1796Arg) rs370816148 0.00010
NM_001384474.1(LOXHD1):c.6640G>A (p.Gly2214Ser) rs769490340 0.00010
NM_001384474.1(LOXHD1):c.2839G>A (p.Asp947Asn) rs371808826 0.00009
NM_001384474.1(LOXHD1):c.2135A>G (p.Lys712Arg) rs1010867059 0.00008
NM_001384474.1(LOXHD1):c.2317C>T (p.Arg773Cys) rs376186520 0.00008
NM_001384474.1(LOXHD1):c.2399T>A (p.Val800Glu) rs755485250 0.00006
NM_001384474.1(LOXHD1):c.3025G>A (p.Val1009Met) rs756508090 0.00006
NM_001384474.1(LOXHD1):c.5804C>T (p.Thr1935Met) rs377485179 0.00006
NM_001384474.1(LOXHD1):c.2308G>A (p.Val770Ile) rs754651566 0.00005
NM_001384474.1(LOXHD1):c.4657G>A (p.Glu1553Lys) rs185142131 0.00003
NM_001384474.1(LOXHD1):c.313A>G (p.Ile105Val) rs1297459733 0.00002
NM_001384474.1(LOXHD1):c.5771C>T (p.Ser1924Leu) rs886053825 0.00002
NM_001384474.1(LOXHD1):c.1164C>G (p.Ile388Met) rs1272867617 0.00001
NM_001384474.1(LOXHD1):c.2677G>A (p.Val893Met) rs769899814 0.00001
NM_001384474.1(LOXHD1):c.37A>G (p.Ile13Val) rs1384593055 0.00001
NM_001384474.1(LOXHD1):c.4529C>T (p.Thr1510Met) rs1032563817 0.00001
NM_001384474.1(LOXHD1):c.458G>A (p.Arg153His) rs778691392 0.00001
NM_001384474.1(LOXHD1):c.6269G>A (p.Arg2090Gln) rs760286647 0.00001
NM_001384474.1(LOXHD1):c.6340G>A (p.Val2114Met) rs1336623338 0.00001
NM_001384474.1(LOXHD1):c.6659G>A (p.Arg2220His) rs886053822 0.00001
NM_001384474.1(LOXHD1):c.670A>C (p.Ile224Leu) rs876657499 0.00001
NM_001384474.1(LOXHD1):c.1047C>G (p.Ile349Met)
NM_001384474.1(LOXHD1):c.1118G>A (p.Gly373Asp)
NM_001384474.1(LOXHD1):c.1148G>A (p.Cys383Tyr)
NM_001384474.1(LOXHD1):c.1160G>A (p.Gly387Asp)
NM_001384474.1(LOXHD1):c.1189T>C (p.Trp397Arg)
NM_001384474.1(LOXHD1):c.1208C>T (p.Ala403Val)
NM_001384474.1(LOXHD1):c.1411G>A (p.Gly471Ser)
NM_001384474.1(LOXHD1):c.1419C>G (p.Ile473Met) rs545358723
NM_001384474.1(LOXHD1):c.1660C>T (p.Arg554Trp)
NM_001384474.1(LOXHD1):c.1712C>G (p.Ala571Gly)
NM_001384474.1(LOXHD1):c.1791C>G (p.Asp597Glu)
NM_001384474.1(LOXHD1):c.1850T>C (p.Val617Ala)
NM_001384474.1(LOXHD1):c.2030G>C (p.Ser677Thr)
NM_001384474.1(LOXHD1):c.2183A>G (p.Lys728Arg)
NM_001384474.1(LOXHD1):c.2219C>G (p.Thr740Ser)
NM_001384474.1(LOXHD1):c.2249A>G (p.Asn750Ser)
NM_001384474.1(LOXHD1):c.2493T>A (p.Ser831Arg)
NM_001384474.1(LOXHD1):c.2623G>T (p.Val875Phe)
NM_001384474.1(LOXHD1):c.2708T>C (p.Val903Ala) rs375940400
NM_001384474.1(LOXHD1):c.2743C>G (p.Arg915Gly)
NM_001384474.1(LOXHD1):c.2854G>A (p.Gly952Arg)
NM_001384474.1(LOXHD1):c.2861A>G (p.Glu954Gly)
NM_001384474.1(LOXHD1):c.2897A>T (p.Glu966Val)
NM_001384474.1(LOXHD1):c.2951A>G (p.Gln984Arg)
NM_001384474.1(LOXHD1):c.2970C>G (p.His990Gln)
NM_001384474.1(LOXHD1):c.2977G>A (p.Glu993Lys)
NM_001384474.1(LOXHD1):c.2986C>T (p.Arg996Cys)
NM_001384474.1(LOXHD1):c.3109G>A (p.Gly1037Ser)
NM_001384474.1(LOXHD1):c.3212G>A (p.Gly1071Glu)
NM_001384474.1(LOXHD1):c.3224C>T (p.Thr1075Ile)
NM_001384474.1(LOXHD1):c.3397G>C (p.Gly1133Arg)
NM_001384474.1(LOXHD1):c.3472G>A (p.Gly1158Ser)
NM_001384474.1(LOXHD1):c.3507G>T (p.Glu1169Asp)
NM_001384474.1(LOXHD1):c.3546G>C (p.Lys1182Asn)
NM_001384474.1(LOXHD1):c.3665A>G (p.Glu1222Gly)
NM_001384474.1(LOXHD1):c.3676A>G (p.Ile1226Val)
NM_001384474.1(LOXHD1):c.3698C>T (p.Thr1233Met)
NM_001384474.1(LOXHD1):c.3714C>A (p.Asp1238Glu)
NM_001384474.1(LOXHD1):c.3753G>C (p.Lys1251Asn)
NM_001384474.1(LOXHD1):c.4081C>T (p.Arg1361Cys)
NM_001384474.1(LOXHD1):c.4109G>A (p.Gly1370Glu)
NM_001384474.1(LOXHD1):c.410G>A (p.Arg137His)
NM_001384474.1(LOXHD1):c.4148C>G (p.Thr1383Arg) rs7244681
NM_001384474.1(LOXHD1):c.4221G>T (p.Glu1407Asp)
NM_001384474.1(LOXHD1):c.4283G>A (p.Arg1428Gln)
NM_001384474.1(LOXHD1):c.4340G>A (p.Arg1447Gln)
NM_001384474.1(LOXHD1):c.4342C>G (p.Gln1448Glu)
NM_001384474.1(LOXHD1):c.4531G>A (p.Ala1511Thr)
NM_001384474.1(LOXHD1):c.4567G>A (p.Val1523Ile)
NM_001384474.1(LOXHD1):c.4757G>A (p.Arg1586His)
NM_001384474.1(LOXHD1):c.4757G>T (p.Arg1586Leu) rs369890906
NM_001384474.1(LOXHD1):c.4981C>A (p.Arg1661Ser)
NM_001384474.1(LOXHD1):c.5408G>A (p.Arg1803Gln)
NM_001384474.1(LOXHD1):c.5423C>A (p.Thr1808Asn)
NM_001384474.1(LOXHD1):c.5438T>G (p.Ile1813Ser)
NM_001384474.1(LOXHD1):c.5494C>G (p.Arg1832Gly)
NM_001384474.1(LOXHD1):c.5918A>G (p.Lys1973Arg)
NM_001384474.1(LOXHD1):c.5935G>A (p.Glu1979Lys)
NM_001384474.1(LOXHD1):c.5998C>T (p.Arg2000Cys)
NM_001384474.1(LOXHD1):c.6010T>C (p.Cys2004Arg)
NM_001384474.1(LOXHD1):c.6092G>A (p.Arg2031Lys)
NM_001384474.1(LOXHD1):c.6168G>C (p.Gln2056His)
NM_001384474.1(LOXHD1):c.6169C>T (p.Arg2057Trp)
NM_001384474.1(LOXHD1):c.6242G>A (p.Cys2081Tyr)
NM_001384474.1(LOXHD1):c.6438C>G (p.Ser2146Arg)
NM_001384474.1(LOXHD1):c.6493G>A (p.Glu2165Lys)
NM_001384474.1(LOXHD1):c.6563G>A (p.Arg2188Gln)
NM_001384474.1(LOXHD1):c.6601G>A (p.Gly2201Ser)
NM_001384474.1(LOXHD1):c.6631C>G (p.Leu2211Val)
NM_001384474.1(LOXHD1):c.6650G>A (p.Arg2217His)
NM_001384474.1(LOXHD1):c.6683A>G (p.Tyr2228Cys)
NM_001384474.1(LOXHD1):c.6706A>G (p.Lys2236Glu)
NM_001384474.1(LOXHD1):c.6751A>C (p.Asn2251His)
NM_001384474.1(LOXHD1):c.6767T>C (p.Leu2256Pro)
NM_001384474.1(LOXHD1):c.710A>G (p.Asn237Ser) rs539278802
NM_001384474.1(LOXHD1):c.764T>A (p.Val255Asp)
NM_001384474.1(LOXHD1):c.781A>C (p.Asn261His)
NM_001384474.1(LOXHD1):c.932G>A (p.Gly311Asp)
NM_001384474.1(LOXHD1):c.961T>C (p.Tyr321His)
NM_001384474.1(LOXHD1):c.974G>A (p.Gly325Glu)

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